A novel FOXC2 mutation in spinal extradural arachnoid cyst
Identifieur interne : 008179 ( Ncbi/Merge ); précédent : 008178; suivant : 008180A novel FOXC2 mutation in spinal extradural arachnoid cyst
Auteurs : Yoji Ogura [Japon] ; Shunsuke Fujibayashi [Japon] ; Aritoshi Iida [Japon] ; Ikuyo Kou [Japon] ; Masahiro Nakajima [Japon] ; Eijiro Okada [Japon] ; Yoshiaki Toyama [Japon] ; Akio Iwanami [Japon] ; Ken Ishii [Japon] ; Masaya Nakamura [Japon] ; Morio Matsumoto [Japon] ; Shiro Ikegawa [Japon]Source :
- Human Genome Variation [ 2054-345X ] ; 2015.
Abstract
Spinal extradural arachnoid cyst (SEDAC) is a cyst in the spinal canal, which causes spinal cord compression and subsequent neurological damage. We previously identified two
Url:
DOI: 10.1038/hgv.2015.32
PubMed: 27081541
PubMed Central: 4785541
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 000905
- to stream Pmc, to step Curation: 000905
- to stream Pmc, to step Checkpoint: 001561
- to stream PubMed, to step Corpus: 001112
- to stream PubMed, to step Curation: 001112
- to stream PubMed, to step Checkpoint: 001112
Links to Exploration step
PMC:4785541Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">A novel <italic>FOXC2</italic>
mutation in spinal extradural arachnoid cyst</title>
<author><name sortKey="Ogura, Yoji" sort="Ogura, Yoji" uniqKey="Ogura Y" first="Yoji" last="Ogura">Yoji Ogura</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Orthopaedic Surgery, School of Medicine, Keio University</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Fujibayashi, Shunsuke" sort="Fujibayashi, Shunsuke" uniqKey="Fujibayashi S" first="Shunsuke" last="Fujibayashi">Shunsuke Fujibayashi</name>
<affiliation wicri:level="1"><nlm:aff id="aff3"><institution>Department of Orthopaedic Surgery, Kyoto University</institution>
, Kyoto,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Iida, Aritoshi" sort="Iida, Aritoshi" uniqKey="Iida A" first="Aritoshi" last="Iida">Aritoshi Iida</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kou, Ikuyo" sort="Kou, Ikuyo" uniqKey="Kou I" first="Ikuyo" last="Kou">Ikuyo Kou</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Nakajima, Masahiro" sort="Nakajima, Masahiro" uniqKey="Nakajima M" first="Masahiro" last="Nakajima">Masahiro Nakajima</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Okada, Eijiro" sort="Okada, Eijiro" uniqKey="Okada E" first="Eijiro" last="Okada">Eijiro Okada</name>
<affiliation wicri:level="1"><nlm:aff id="aff4"><institution>Department of Orthopaedic Surgery, Saiseikai Central Hospital</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Toyama, Yoshiaki" sort="Toyama, Yoshiaki" uniqKey="Toyama Y" first="Yoshiaki" last="Toyama">Yoshiaki Toyama</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Orthopaedic Surgery, School of Medicine, Keio University</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Iwanami, Akio" sort="Iwanami, Akio" uniqKey="Iwanami A" first="Akio" last="Iwanami">Akio Iwanami</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Orthopaedic Surgery, School of Medicine, Keio University</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ishii, Ken" sort="Ishii, Ken" uniqKey="Ishii K" first="Ken" last="Ishii">Ken Ishii</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Orthopaedic Surgery, School of Medicine, Keio University</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Nakamura, Masaya" sort="Nakamura, Masaya" uniqKey="Nakamura M" first="Masaya" last="Nakamura">Masaya Nakamura</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Orthopaedic Surgery, School of Medicine, Keio University</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Matsumoto, Morio" sort="Matsumoto, Morio" uniqKey="Matsumoto M" first="Morio" last="Matsumoto">Morio Matsumoto</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Orthopaedic Surgery, School of Medicine, Keio University</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ikegawa, Shiro" sort="Ikegawa, Shiro" uniqKey="Ikegawa S" first="Shiro" last="Ikegawa">Shiro Ikegawa</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">27081541</idno>
<idno type="pmc">4785541</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785541</idno>
<idno type="RBID">PMC:4785541</idno>
<idno type="doi">10.1038/hgv.2015.32</idno>
<date when="2015">2015</date>
<idno type="wicri:Area/Pmc/Corpus">000905</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000905</idno>
<idno type="wicri:Area/Pmc/Curation">000905</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000905</idno>
<idno type="wicri:Area/Pmc/Checkpoint">001561</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001561</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="wicri:Area/PubMed/Corpus">001112</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001112</idno>
<idno type="wicri:Area/PubMed/Curation">001112</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001112</idno>
<idno type="wicri:Area/PubMed/Checkpoint">001112</idno>
<idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001112</idno>
<idno type="wicri:Area/Ncbi/Merge">008179</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">A novel <italic>FOXC2</italic>
mutation in spinal extradural arachnoid cyst</title>
<author><name sortKey="Ogura, Yoji" sort="Ogura, Yoji" uniqKey="Ogura Y" first="Yoji" last="Ogura">Yoji Ogura</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Orthopaedic Surgery, School of Medicine, Keio University</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Fujibayashi, Shunsuke" sort="Fujibayashi, Shunsuke" uniqKey="Fujibayashi S" first="Shunsuke" last="Fujibayashi">Shunsuke Fujibayashi</name>
<affiliation wicri:level="1"><nlm:aff id="aff3"><institution>Department of Orthopaedic Surgery, Kyoto University</institution>
, Kyoto,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Iida, Aritoshi" sort="Iida, Aritoshi" uniqKey="Iida A" first="Aritoshi" last="Iida">Aritoshi Iida</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kou, Ikuyo" sort="Kou, Ikuyo" uniqKey="Kou I" first="Ikuyo" last="Kou">Ikuyo Kou</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Nakajima, Masahiro" sort="Nakajima, Masahiro" uniqKey="Nakajima M" first="Masahiro" last="Nakajima">Masahiro Nakajima</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Okada, Eijiro" sort="Okada, Eijiro" uniqKey="Okada E" first="Eijiro" last="Okada">Eijiro Okada</name>
<affiliation wicri:level="1"><nlm:aff id="aff4"><institution>Department of Orthopaedic Surgery, Saiseikai Central Hospital</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Toyama, Yoshiaki" sort="Toyama, Yoshiaki" uniqKey="Toyama Y" first="Yoshiaki" last="Toyama">Yoshiaki Toyama</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Orthopaedic Surgery, School of Medicine, Keio University</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Iwanami, Akio" sort="Iwanami, Akio" uniqKey="Iwanami A" first="Akio" last="Iwanami">Akio Iwanami</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Orthopaedic Surgery, School of Medicine, Keio University</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ishii, Ken" sort="Ishii, Ken" uniqKey="Ishii K" first="Ken" last="Ishii">Ken Ishii</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Orthopaedic Surgery, School of Medicine, Keio University</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Nakamura, Masaya" sort="Nakamura, Masaya" uniqKey="Nakamura M" first="Masaya" last="Nakamura">Masaya Nakamura</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Orthopaedic Surgery, School of Medicine, Keio University</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Matsumoto, Morio" sort="Matsumoto, Morio" uniqKey="Matsumoto M" first="Morio" last="Matsumoto">Morio Matsumoto</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Orthopaedic Surgery, School of Medicine, Keio University</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ikegawa, Shiro" sort="Ikegawa, Shiro" uniqKey="Ikegawa S" first="Shiro" last="Ikegawa">Shiro Ikegawa</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
</analytic>
<series><title level="j">Human Genome Variation</title>
<idno type="eISSN">2054-345X</idno>
<imprint><date when="2015">2015</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Spinal extradural arachnoid cyst (SEDAC) is a cyst in the spinal canal, which causes spinal cord compression and subsequent neurological damage. We previously identified two <italic>FOXC2</italic>
mutations in two SEDAC families. The <italic>FOXC2</italic>
mutations have been shown to be responsible for lymphedema-distichiasis syndrome (LDS), which includes SEDAC as an occasionally associated phenotype. We encountered a non-familial patient with SEDAC associated with LDS, and identified a novel nonsense mutation in <italic>FOXC2</italic>
, c.349C>T (p.Q117*).</p>
</div>
</front>
<back><div1 type="bibliography"><listBibl><biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
</listBibl>
</div1>
</back>
</TEI>
<double pmid="27081541"><pmc><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">A novel <italic>FOXC2</italic>
mutation in spinal extradural arachnoid cyst</title>
<author><name sortKey="Ogura, Yoji" sort="Ogura, Yoji" uniqKey="Ogura Y" first="Yoji" last="Ogura">Yoji Ogura</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Orthopaedic Surgery, School of Medicine, Keio University</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Fujibayashi, Shunsuke" sort="Fujibayashi, Shunsuke" uniqKey="Fujibayashi S" first="Shunsuke" last="Fujibayashi">Shunsuke Fujibayashi</name>
<affiliation wicri:level="1"><nlm:aff id="aff3"><institution>Department of Orthopaedic Surgery, Kyoto University</institution>
, Kyoto,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Iida, Aritoshi" sort="Iida, Aritoshi" uniqKey="Iida A" first="Aritoshi" last="Iida">Aritoshi Iida</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kou, Ikuyo" sort="Kou, Ikuyo" uniqKey="Kou I" first="Ikuyo" last="Kou">Ikuyo Kou</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Nakajima, Masahiro" sort="Nakajima, Masahiro" uniqKey="Nakajima M" first="Masahiro" last="Nakajima">Masahiro Nakajima</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Okada, Eijiro" sort="Okada, Eijiro" uniqKey="Okada E" first="Eijiro" last="Okada">Eijiro Okada</name>
<affiliation wicri:level="1"><nlm:aff id="aff4"><institution>Department of Orthopaedic Surgery, Saiseikai Central Hospital</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Toyama, Yoshiaki" sort="Toyama, Yoshiaki" uniqKey="Toyama Y" first="Yoshiaki" last="Toyama">Yoshiaki Toyama</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Orthopaedic Surgery, School of Medicine, Keio University</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Iwanami, Akio" sort="Iwanami, Akio" uniqKey="Iwanami A" first="Akio" last="Iwanami">Akio Iwanami</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Orthopaedic Surgery, School of Medicine, Keio University</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ishii, Ken" sort="Ishii, Ken" uniqKey="Ishii K" first="Ken" last="Ishii">Ken Ishii</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Orthopaedic Surgery, School of Medicine, Keio University</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Nakamura, Masaya" sort="Nakamura, Masaya" uniqKey="Nakamura M" first="Masaya" last="Nakamura">Masaya Nakamura</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Orthopaedic Surgery, School of Medicine, Keio University</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Matsumoto, Morio" sort="Matsumoto, Morio" uniqKey="Matsumoto M" first="Morio" last="Matsumoto">Morio Matsumoto</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Orthopaedic Surgery, School of Medicine, Keio University</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ikegawa, Shiro" sort="Ikegawa, Shiro" uniqKey="Ikegawa S" first="Shiro" last="Ikegawa">Shiro Ikegawa</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">27081541</idno>
<idno type="pmc">4785541</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785541</idno>
<idno type="RBID">PMC:4785541</idno>
<idno type="doi">10.1038/hgv.2015.32</idno>
<date when="2015">2015</date>
<idno type="wicri:Area/Pmc/Corpus">000905</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000905</idno>
<idno type="wicri:Area/Pmc/Curation">000905</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000905</idno>
<idno type="wicri:Area/Pmc/Checkpoint">001561</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001561</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">A novel <italic>FOXC2</italic>
mutation in spinal extradural arachnoid cyst</title>
<author><name sortKey="Ogura, Yoji" sort="Ogura, Yoji" uniqKey="Ogura Y" first="Yoji" last="Ogura">Yoji Ogura</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Orthopaedic Surgery, School of Medicine, Keio University</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Fujibayashi, Shunsuke" sort="Fujibayashi, Shunsuke" uniqKey="Fujibayashi S" first="Shunsuke" last="Fujibayashi">Shunsuke Fujibayashi</name>
<affiliation wicri:level="1"><nlm:aff id="aff3"><institution>Department of Orthopaedic Surgery, Kyoto University</institution>
, Kyoto,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Iida, Aritoshi" sort="Iida, Aritoshi" uniqKey="Iida A" first="Aritoshi" last="Iida">Aritoshi Iida</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kou, Ikuyo" sort="Kou, Ikuyo" uniqKey="Kou I" first="Ikuyo" last="Kou">Ikuyo Kou</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Nakajima, Masahiro" sort="Nakajima, Masahiro" uniqKey="Nakajima M" first="Masahiro" last="Nakajima">Masahiro Nakajima</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Okada, Eijiro" sort="Okada, Eijiro" uniqKey="Okada E" first="Eijiro" last="Okada">Eijiro Okada</name>
<affiliation wicri:level="1"><nlm:aff id="aff4"><institution>Department of Orthopaedic Surgery, Saiseikai Central Hospital</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Toyama, Yoshiaki" sort="Toyama, Yoshiaki" uniqKey="Toyama Y" first="Yoshiaki" last="Toyama">Yoshiaki Toyama</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Orthopaedic Surgery, School of Medicine, Keio University</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Iwanami, Akio" sort="Iwanami, Akio" uniqKey="Iwanami A" first="Akio" last="Iwanami">Akio Iwanami</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Orthopaedic Surgery, School of Medicine, Keio University</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ishii, Ken" sort="Ishii, Ken" uniqKey="Ishii K" first="Ken" last="Ishii">Ken Ishii</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Orthopaedic Surgery, School of Medicine, Keio University</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Nakamura, Masaya" sort="Nakamura, Masaya" uniqKey="Nakamura M" first="Masaya" last="Nakamura">Masaya Nakamura</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Orthopaedic Surgery, School of Medicine, Keio University</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Matsumoto, Morio" sort="Matsumoto, Morio" uniqKey="Matsumoto M" first="Morio" last="Matsumoto">Morio Matsumoto</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>Department of Orthopaedic Surgery, School of Medicine, Keio University</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ikegawa, Shiro" sort="Ikegawa, Shiro" uniqKey="Ikegawa S" first="Shiro" last="Ikegawa">Shiro Ikegawa</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences</institution>
, Tokyo,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
</analytic>
<series><title level="j">Human Genome Variation</title>
<idno type="eISSN">2054-345X</idno>
<imprint><date when="2015">2015</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Spinal extradural arachnoid cyst (SEDAC) is a cyst in the spinal canal, which causes spinal cord compression and subsequent neurological damage. We previously identified two <italic>FOXC2</italic>
mutations in two SEDAC families. The <italic>FOXC2</italic>
mutations have been shown to be responsible for lymphedema-distichiasis syndrome (LDS), which includes SEDAC as an occasionally associated phenotype. We encountered a non-familial patient with SEDAC associated with LDS, and identified a novel nonsense mutation in <italic>FOXC2</italic>
, c.349C>T (p.Q117*).</p>
</div>
</front>
<back><div1 type="bibliography"><listBibl><biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
</listBibl>
</div1>
</back>
</TEI>
</pmc>
<pubmed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">A novel FOXC2 mutation in spinal extradural arachnoid cyst.</title>
<author><name sortKey="Ogura, Yoji" sort="Ogura, Yoji" uniqKey="Ogura Y" first="Yoji" last="Ogura">Yoji Ogura</name>
<affiliation wicri:level="3"><nlm:affiliation>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan; Department of Orthopaedic Surgery, School of Medicine, Keio University, Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan; Department of Orthopaedic Surgery, School of Medicine, Keio University, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
<region type="région">Région de Kantō</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Fujibayashi, Shunsuke" sort="Fujibayashi, Shunsuke" uniqKey="Fujibayashi S" first="Shunsuke" last="Fujibayashi">Shunsuke Fujibayashi</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Orthopaedic Surgery, Kyoto University , Kyoto, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Orthopaedic Surgery, Kyoto University , Kyoto</wicri:regionArea>
<wicri:noRegion>Kyoto</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Iida, Aritoshi" sort="Iida, Aritoshi" uniqKey="Iida A" first="Aritoshi" last="Iida">Aritoshi Iida</name>
<affiliation wicri:level="3"><nlm:affiliation>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences , Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences , Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
<region type="région">Région de Kantō</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kou, Ikuyo" sort="Kou, Ikuyo" uniqKey="Kou I" first="Ikuyo" last="Kou">Ikuyo Kou</name>
<affiliation wicri:level="3"><nlm:affiliation>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences , Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences , Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
<region type="région">Région de Kantō</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Nakajima, Masahiro" sort="Nakajima, Masahiro" uniqKey="Nakajima M" first="Masahiro" last="Nakajima">Masahiro Nakajima</name>
<affiliation wicri:level="3"><nlm:affiliation>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences , Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences , Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
<region type="région">Région de Kantō</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Okada, Eijiro" sort="Okada, Eijiro" uniqKey="Okada E" first="Eijiro" last="Okada">Eijiro Okada</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Orthopaedic Surgery, Saiseikai Central Hospital , Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Orthopaedic Surgery, Saiseikai Central Hospital , Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
<region type="région">Région de Kantō</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Toyama, Yoshiaki" sort="Toyama, Yoshiaki" uniqKey="Toyama Y" first="Yoshiaki" last="Toyama">Yoshiaki Toyama</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Orthopaedic Surgery, School of Medicine, Keio University , Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Orthopaedic Surgery, School of Medicine, Keio University , Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
<region type="région">Région de Kantō</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Iwanami, Akio" sort="Iwanami, Akio" uniqKey="Iwanami A" first="Akio" last="Iwanami">Akio Iwanami</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Orthopaedic Surgery, School of Medicine, Keio University , Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Orthopaedic Surgery, School of Medicine, Keio University , Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
<region type="région">Région de Kantō</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ishii, Ken" sort="Ishii, Ken" uniqKey="Ishii K" first="Ken" last="Ishii">Ken Ishii</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Orthopaedic Surgery, School of Medicine, Keio University , Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Orthopaedic Surgery, School of Medicine, Keio University , Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
<region type="région">Région de Kantō</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Nakamura, Masaya" sort="Nakamura, Masaya" uniqKey="Nakamura M" first="Masaya" last="Nakamura">Masaya Nakamura</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Orthopaedic Surgery, School of Medicine, Keio University , Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Orthopaedic Surgery, School of Medicine, Keio University , Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
<region type="région">Région de Kantō</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Matsumoto, Morio" sort="Matsumoto, Morio" uniqKey="Matsumoto M" first="Morio" last="Matsumoto">Morio Matsumoto</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Orthopaedic Surgery, School of Medicine, Keio University , Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Orthopaedic Surgery, School of Medicine, Keio University , Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
<region type="région">Région de Kantō</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ikegawa, Shiro" sort="Ikegawa, Shiro" uniqKey="Ikegawa S" first="Shiro" last="Ikegawa">Shiro Ikegawa</name>
<affiliation wicri:level="3"><nlm:affiliation>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences , Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences , Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
<region type="région">Région de Kantō</region>
</placeName>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2015">2015</date>
<idno type="RBID">pubmed:27081541</idno>
<idno type="pmid">27081541</idno>
<idno type="doi">10.1038/hgv.2015.32</idno>
<idno type="wicri:Area/PubMed/Corpus">001112</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001112</idno>
<idno type="wicri:Area/PubMed/Curation">001112</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001112</idno>
<idno type="wicri:Area/PubMed/Checkpoint">001112</idno>
<idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001112</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">A novel FOXC2 mutation in spinal extradural arachnoid cyst.</title>
<author><name sortKey="Ogura, Yoji" sort="Ogura, Yoji" uniqKey="Ogura Y" first="Yoji" last="Ogura">Yoji Ogura</name>
<affiliation wicri:level="3"><nlm:affiliation>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan; Department of Orthopaedic Surgery, School of Medicine, Keio University, Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan; Department of Orthopaedic Surgery, School of Medicine, Keio University, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
<region type="région">Région de Kantō</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Fujibayashi, Shunsuke" sort="Fujibayashi, Shunsuke" uniqKey="Fujibayashi S" first="Shunsuke" last="Fujibayashi">Shunsuke Fujibayashi</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Orthopaedic Surgery, Kyoto University , Kyoto, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Orthopaedic Surgery, Kyoto University , Kyoto</wicri:regionArea>
<wicri:noRegion>Kyoto</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Iida, Aritoshi" sort="Iida, Aritoshi" uniqKey="Iida A" first="Aritoshi" last="Iida">Aritoshi Iida</name>
<affiliation wicri:level="3"><nlm:affiliation>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences , Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences , Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
<region type="région">Région de Kantō</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kou, Ikuyo" sort="Kou, Ikuyo" uniqKey="Kou I" first="Ikuyo" last="Kou">Ikuyo Kou</name>
<affiliation wicri:level="3"><nlm:affiliation>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences , Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences , Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
<region type="région">Région de Kantō</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Nakajima, Masahiro" sort="Nakajima, Masahiro" uniqKey="Nakajima M" first="Masahiro" last="Nakajima">Masahiro Nakajima</name>
<affiliation wicri:level="3"><nlm:affiliation>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences , Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences , Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
<region type="région">Région de Kantō</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Okada, Eijiro" sort="Okada, Eijiro" uniqKey="Okada E" first="Eijiro" last="Okada">Eijiro Okada</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Orthopaedic Surgery, Saiseikai Central Hospital , Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Orthopaedic Surgery, Saiseikai Central Hospital , Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
<region type="région">Région de Kantō</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Toyama, Yoshiaki" sort="Toyama, Yoshiaki" uniqKey="Toyama Y" first="Yoshiaki" last="Toyama">Yoshiaki Toyama</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Orthopaedic Surgery, School of Medicine, Keio University , Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Orthopaedic Surgery, School of Medicine, Keio University , Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
<region type="région">Région de Kantō</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Iwanami, Akio" sort="Iwanami, Akio" uniqKey="Iwanami A" first="Akio" last="Iwanami">Akio Iwanami</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Orthopaedic Surgery, School of Medicine, Keio University , Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Orthopaedic Surgery, School of Medicine, Keio University , Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
<region type="région">Région de Kantō</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ishii, Ken" sort="Ishii, Ken" uniqKey="Ishii K" first="Ken" last="Ishii">Ken Ishii</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Orthopaedic Surgery, School of Medicine, Keio University , Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Orthopaedic Surgery, School of Medicine, Keio University , Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
<region type="région">Région de Kantō</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Nakamura, Masaya" sort="Nakamura, Masaya" uniqKey="Nakamura M" first="Masaya" last="Nakamura">Masaya Nakamura</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Orthopaedic Surgery, School of Medicine, Keio University , Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Orthopaedic Surgery, School of Medicine, Keio University , Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
<region type="région">Région de Kantō</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Matsumoto, Morio" sort="Matsumoto, Morio" uniqKey="Matsumoto M" first="Morio" last="Matsumoto">Morio Matsumoto</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Orthopaedic Surgery, School of Medicine, Keio University , Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Orthopaedic Surgery, School of Medicine, Keio University , Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
<region type="région">Région de Kantō</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ikegawa, Shiro" sort="Ikegawa, Shiro" uniqKey="Ikegawa S" first="Shiro" last="Ikegawa">Shiro Ikegawa</name>
<affiliation wicri:level="3"><nlm:affiliation>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences , Tokyo, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences , Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
<region type="région">Région de Kantō</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">Human genome variation</title>
<idno type="ISSN">2054-345X</idno>
<imprint><date when="2015" type="published">2015</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Spinal extradural arachnoid cyst (SEDAC) is a cyst in the spinal canal, which causes spinal cord compression and subsequent neurological damage. We previously identified two FOXC2 mutations in two SEDAC families. The FOXC2 mutations have been shown to be responsible for lymphedema-distichiasis syndrome (LDS), which includes SEDAC as an occasionally associated phenotype. We encountered a non-familial patient with SEDAC associated with LDS, and identified a novel nonsense mutation in FOXC2, c.349C>T (p.Q117*).</div>
</front>
</TEI>
</pubmed>
</double>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Ncbi/Merge
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 008179 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Merge/biblio.hfd -nk 008179 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= LymphedemaV1 |flux= Ncbi |étape= Merge |type= RBID |clé= PMC:4785541 |texte= A novel FOXC2 mutation in spinal extradural arachnoid cyst }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Merge/RBID.i -Sk "pubmed:27081541" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Merge/biblio.hfd \ | NlmPubMed2Wicri -a LymphedemaV1
This area was generated with Dilib version V0.6.31. |