LymphedemaV1, Main, Exploration, bibRecord, 004931

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

Identifieur interne : 004931 ( Main/Exploration ); précédent : 004930; suivant : 004932

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

Auteurs : Pia Ostergaard [Royaume-Uni] ; Michael A. Simpson [Royaume-Uni] ; Antonella Mendola [Belgique] ; Pradeep Vasudevan [Royaume-Uni] ; Fiona C. Connell [Royaume-Uni] ; Andreas Van Impel [Pays-Bas] ; Anthony T. Moore [Royaume-Uni] ; Bart L. Loeys [Belgique] ; Arash Ghalamkarpour [Belgique] ; Alexandros Onoufriadis [Royaume-Uni] ; Ines Martinez-Corral [Royaume-Uni] ; Sophie Devery [Royaume-Uni] ; Jules G. Leroy [Belgique] ; Lut Van Laer [Belgique] ; Amihood Singer [Israël] ; Martin G. Bialer [États-Unis] ; Meriel Mcentagart [Royaume-Uni] ; Oliver Quarrell [Royaume-Uni] ; Glen Brice [Royaume-Uni] ; Richard C. Trembath [Royaume-Uni] ; Stefan Schulte-Merker [Pays-Bas] ; Taija Makinen [Royaume-Uni] ; Miikka Vikkula [Belgique] ; Peter S. Mortimer [Royaume-Uni] ; Sahar Mansour [Royaume-Uni] ; Steve Jeffery [Royaume-Uni]

Source :

American journal of human genetics [ 0002-9297 ] ; 2012.

RBID : Pascal:12-0150136

Descripteurs français

Pascal (Inist)
- Microcéphalie, Lymphoedème, Choriorétinopathie, Mutation, Maladie héréditaire, Caractère autosomique, Caractère dominant, Congénital, Génétique, Homme.
Wicri :
- topic : Génétique, Homme.

English descriptors

KwdEn :
- Autosomal character, Chorioretinopathy, Congenital, Dominant character, Genetic disease, Genetics, Human, Lymphedema, Microcephaly, Mutation.

Abstract

We have identified KIF11 mutations in individuals with syndromic autosomal-dominant microcephaly associated with lymphedema and/or chorioretinopathy. Initial whole-exome sequencing revealed heterozygous KIF11 mutations in three individuals with a combination of microcephaly and lymphedema from a microcephaly-lymphedema-chorioretinal-dysplasia cohort. Subsequent Sanger sequencing of KIFI11 in a further 15 unrelated microcephalic probands with lymphedema and/or chorioretinopathy identified additional heterozygous mutations in 12 of them. KIF11 encodes EG5, a homotetramer kinesin motor. The variety of mutations we have found (two nonsense, two splice site, four missense, and six indels causing frameshifts) are all predicted to have an impact on protein function. EG5 has previously been shown to play a role in spindle assembly and function, and these findings highlight the critical role of proteins necessary for spindle formation in CNS development. Moreover, identification of KIF11 mutations in patients with chorioretinopathy and lymphedema suggests that EG5 is involved in the development and maintenance of retinal and lymphatic structures.

Affiliations:

Links toward previous steps (curation, corpus...)

to stream PascalFrancis, to step Corpus: 000105
to stream PascalFrancis, to step Curation: 000852
to stream PascalFrancis, to step Checkpoint: 000088
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to stream Main, to step Curation: 004931

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy</title>
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<country>Royaume-Uni</country>
<wicri:noRegion>London SE1 9RT</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mendola, Antonella" sort="Mendola, Antonella" uniqKey="Mendola A" first="Antonella" last="Mendola">Antonella Mendola</name>
<affiliation wicri:level="4"><inist:fA14 i1="03"><s1>Laboratory of Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain</s1>
<s2>1200 Brussels</s2>
<s3>BEL</s3>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="land" nuts="2">Vienne (Autriche)</region>
<settlement type="city">Vienne (Autriche)</settlement>
<settlement type="city">Louvain-la-Neuve</settlement>
</placeName>
<orgName type="university">Université catholique de Louvain</orgName>
</affiliation>
</author>
<author><name sortKey="Vasudevan, Pradeep" sort="Vasudevan, Pradeep" uniqKey="Vasudevan P" first="Pradeep" last="Vasudevan">Pradeep Vasudevan</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Clinical Genetics, University Hospitals of Leicester National Health Services Trust, Leicester Royal Infirmary</s1>
<s2>Leicester LE1 5WW</s2>
<s3>GBR</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Leicester LE1 5WW</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Connell, Fiona C" sort="Connell, Fiona C" uniqKey="Connell F" first="Fiona C." last="Connell">Fiona C. Connell</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Clinical Genetics, Guy's and St. Thomas' National Health Services Foundation Trust, Guy's Hospital</s1>
<s2>London SE1 9RT</s2>
<s3>GBR</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>London SE1 9RT</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Impel, Andreas Van" sort="Impel, Andreas Van" uniqKey="Impel A" first="Andreas Van" last="Impel">Andreas Van Impel</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences, in collaboration with the Universitair Medisch Centrum Utrecht</s1>
<s2>3584 CT Utrecht</s2>
<s3>NLD</s3>
<sZ>6 aut.</sZ>
<sZ>21 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>3584 CT Utrecht</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Moore, Anthony T" sort="Moore, Anthony T" uniqKey="Moore A" first="Anthony T." last="Moore">Anthony T. Moore</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>University College London Institute of Ophthalmology, Moorfields Eye Hospital and Hospital for Children</s1>
<s2>London EC1V 2PD</s2>
<s3>GBR</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>London EC1V 2PD</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Loeys, Bart L" sort="Loeys, Bart L" uniqKey="Loeys B" first="Bart L." last="Loeys">Bart L. Loeys</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Center for Medical Genetics, Antwerp University Hospital and University of Antwerp</s1>
<s2>2650 Antwerp</s2>
<s3>BEL</s3>
<sZ>8 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<wicri:noRegion>2650 Antwerp</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ghalamkarpour, Arash" sort="Ghalamkarpour, Arash" uniqKey="Ghalamkarpour A" first="Arash" last="Ghalamkarpour">Arash Ghalamkarpour</name>
<affiliation wicri:level="4"><inist:fA14 i1="03"><s1>Laboratory of Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain</s1>
<s2>1200 Brussels</s2>
<s3>BEL</s3>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="land" nuts="2">Vienne (Autriche)</region>
<settlement type="city">Vienne (Autriche)</settlement>
<settlement type="city">Louvain-la-Neuve</settlement>
</placeName>
<orgName type="university">Université catholique de Louvain</orgName>
</affiliation>
</author>
<author><name sortKey="Onoufriadis, Alexandros" sort="Onoufriadis, Alexandros" uniqKey="Onoufriadis A" first="Alexandros" last="Onoufriadis">Alexandros Onoufriadis</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital</s1>
<s2>London SE1 9RT</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>20 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>London SE1 9RT</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Martinez Corral, Ines" sort="Martinez Corral, Ines" uniqKey="Martinez Corral I" first="Ines" last="Martinez-Corral">Ines Martinez-Corral</name>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Lymphatic Development Laboratory, Cancer Research UK London Research Institute</s1>
<s2>London WC2A 3PX</s2>
<s3>GBR</s3>
<sZ>11 aut.</sZ>
<sZ>22 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>London WC2A 3PX</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Devery, Sophie" sort="Devery, Sophie" uniqKey="Devery S" first="Sophie" last="Devery">Sophie Devery</name>
<affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Moorfields Eye Hospital NHS Foundation Trust</s1>
<s2>London EC1V 2PD</s2>
<s3>GBR</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Moorfields Eye Hospital NHS Foundation Trust</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Leroy, Jules G" sort="Leroy, Jules G" uniqKey="Leroy J" first="Jules G." last="Leroy">Jules G. Leroy</name>
<affiliation wicri:level="3"><inist:fA14 i1="11"><s1>C. Hooft Children's Hospital, Ghent University Hospital</s1>
<s2>9000 Ghent</s2>
<s3>BEL</s3>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="province" nuts="2">Province de Flandre-Orientale</region>
<settlement type="city">Gand</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Laer, Lut Van" sort="Laer, Lut Van" uniqKey="Laer L" first="Lut Van" last="Laer">Lut Van Laer</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Center for Medical Genetics, Antwerp University Hospital and University of Antwerp</s1>
<s2>2650 Antwerp</s2>
<s3>BEL</s3>
<sZ>8 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<wicri:noRegion>2650 Antwerp</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Singer, Amihood" sort="Singer, Amihood" uniqKey="Singer A" first="Amihood" last="Singer">Amihood Singer</name>
<affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Paediatrics and Medical Genetics, Barzilai Medical Center</s1>
<s2>78306 Ashkelon</s2>
<s3>ISR</s3>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>Israël</country>
<wicri:noRegion>78306 Ashkelon</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bialer, Martin G" sort="Bialer, Martin G" uniqKey="Bialer M" first="Martin G." last="Bialer">Martin G. Bialer</name>
<affiliation wicri:level="2"><inist:fA14 i1="13"><s1>Division of Medical Genetics, North Shore-Long Island Jewish Health System</s1>
<s2>Manhasset, NY 11030</s2>
<s3>USA</s3>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mcentagart, Meriel" sort="Mcentagart, Meriel" uniqKey="Mcentagart M" first="Meriel" last="Mcentagart">Meriel Mcentagart</name>
<affiliation wicri:level="4"><inist:fA14 i1="14"><s1>South West Thames Regional Genetics Service, St. George's University of London</s1>
<s2>London SW17 ORE</s2>
<s3>GBR</s3>
<sZ>17 aut.</sZ>
<sZ>19 aut.</sZ>
<sZ>25 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<orgName type="university">Université de Londres</orgName>
</affiliation>
</author>
<author><name sortKey="Quarrell, Oliver" sort="Quarrell, Oliver" uniqKey="Quarrell O" first="Oliver" last="Quarrell">Oliver Quarrell</name>
<affiliation wicri:level="1"><inist:fA14 i1="15"><s1>Sheffield Clinical Genetics Service, Sheffield Children's Hospital</s1>
<s2>Sheffield S10 2TH</s2>
<s3>GBR</s3>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Sheffield S10 2TH</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name>
<affiliation wicri:level="4"><inist:fA14 i1="14"><s1>South West Thames Regional Genetics Service, St. George's University of London</s1>
<s2>London SW17 ORE</s2>
<s3>GBR</s3>
<sZ>17 aut.</sZ>
<sZ>19 aut.</sZ>
<sZ>25 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<orgName type="university">Université de Londres</orgName>
</affiliation>
</author>
<author><name sortKey="Trembath, Richard C" sort="Trembath, Richard C" uniqKey="Trembath R" first="Richard C." last="Trembath">Richard C. Trembath</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital</s1>
<s2>London SE1 9RT</s2>
<s3>GBR</s3>
<sZ>2 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>20 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>London SE1 9RT</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Schulte Merker, Stefan" sort="Schulte Merker, Stefan" uniqKey="Schulte Merker S" first="Stefan" last="Schulte-Merker">Stefan Schulte-Merker</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences, in collaboration with the Universitair Medisch Centrum Utrecht</s1>
<s2>3584 CT Utrecht</s2>
<s3>NLD</s3>
<sZ>6 aut.</sZ>
<sZ>21 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>3584 CT Utrecht</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Makinen, Taija" sort="Makinen, Taija" uniqKey="Makinen T" first="Taija" last="Makinen">Taija Makinen</name>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Lymphatic Development Laboratory, Cancer Research UK London Research Institute</s1>
<s2>London WC2A 3PX</s2>
<s3>GBR</s3>
<sZ>11 aut.</sZ>
<sZ>22 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>London WC2A 3PX</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name>
<affiliation wicri:level="4"><inist:fA14 i1="03"><s1>Laboratory of Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain</s1>
<s2>1200 Brussels</s2>
<s3>BEL</s3>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="land" nuts="2">Vienne (Autriche)</region>
<settlement type="city">Vienne (Autriche)</settlement>
<settlement type="city">Louvain-la-Neuve</settlement>
</placeName>
<orgName type="university">Université catholique de Louvain</orgName>
</affiliation>
<affiliation wicri:level="4"><inist:fA14 i1="16"><s1>Walloon Excellence in Lifesciences and Biotechnology, Université catholique de Louvain</s1>
<s2>1200 Brussels</s2>
<s3>BEL</s3>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="land" nuts="2">Vienne (Autriche)</region>
<settlement type="city">Vienne (Autriche)</settlement>
<settlement type="city">Louvain-la-Neuve</settlement>
</placeName>
<orgName type="university">Université catholique de Louvain</orgName>
</affiliation>
</author>
<author><name sortKey="Mortimer, Peter S" sort="Mortimer, Peter S" uniqKey="Mortimer P" first="Peter S." last="Mortimer">Peter S. Mortimer</name>
<affiliation wicri:level="4"><inist:fA14 i1="17"><s1>Department of Cardiac and Vascular Sciences, St. George's University of London</s1>
<s2>London SW17 0RE</s2>
<s3>GBR</s3>
<sZ>24 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<orgName type="university">Université de Londres</orgName>
</affiliation>
</author>
<author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name>
<affiliation wicri:level="4"><inist:fA14 i1="14"><s1>South West Thames Regional Genetics Service, St. George's University of London</s1>
<s2>London SW17 ORE</s2>
<s3>GBR</s3>
<sZ>17 aut.</sZ>
<sZ>19 aut.</sZ>
<sZ>25 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<orgName type="university">Université de Londres</orgName>
</affiliation>
</author>
<author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name>
<affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Medical Genetics Unit, Biomedical Sciences, St. George's University of London</s1>
<s2>London SW17 0RE</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>26 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
<orgName type="university">Université de Londres</orgName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">American journal of human genetics</title>
<title level="j" type="abbreviated">Am. j. hum. genet.</title>
<idno type="ISSN">0002-9297</idno>
<imprint><date when="2012">2012</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">American journal of human genetics</title>
<title level="j" type="abbreviated">Am. j. hum. genet.</title>
<idno type="ISSN">0002-9297</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Autosomal character</term>
<term>Chorioretinopathy</term>
<term>Congenital</term>
<term>Dominant character</term>
<term>Genetic disease</term>
<term>Genetics</term>
<term>Human</term>
<term>Lymphedema</term>
<term>Microcephaly</term>
<term>Mutation</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Microcéphalie</term>
<term>Lymphoedème</term>
<term>Choriorétinopathie</term>
<term>Mutation</term>
<term>Maladie héréditaire</term>
<term>Caractère autosomique</term>
<term>Caractère dominant</term>
<term>Congénital</term>
<term>Génétique</term>
<term>Homme</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term>
<term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">We have identified KIF11 mutations in individuals with syndromic autosomal-dominant microcephaly associated with lymphedema and/or chorioretinopathy. Initial whole-exome sequencing revealed heterozygous KIF11 mutations in three individuals with a combination of microcephaly and lymphedema from a microcephaly-lymphedema-chorioretinal-dysplasia cohort. Subsequent Sanger sequencing of KIFI11 in a further 15 unrelated microcephalic probands with lymphedema and/or chorioretinopathy identified additional heterozygous mutations in 12 of them. KIF11 encodes EG5, a homotetramer kinesin motor. The variety of mutations we have found (two nonsense, two splice site, four missense, and six indels causing frameshifts) are all predicted to have an impact on protein function. EG5 has previously been shown to play a role in spindle assembly and function, and these findings highlight the critical role of proteins necessary for spindle formation in CNS development. Moreover, identification of KIF11 mutations in patients with chorioretinopathy and lymphedema suggests that EG5 is involved in the development and maintenance of retinal and lymphatic structures.</div>
</front>
</TEI>
<affiliations><list><country><li>Belgique</li>
<li>Israël</li>
<li>Pays-Bas</li>
<li>Royaume-Uni</li>
<li>États-Unis</li>
</country>
<region><li>Angleterre</li>
<li>Grand Londres</li>
<li>Province de Flandre-Orientale</li>
<li>Vienne (Autriche)</li>
<li>État de New York</li>
</region>
<settlement><li>Gand</li>
<li>Londres</li>
<li>Louvain-la-Neuve</li>
<li>Vienne (Autriche)</li>
</settlement>
<orgName><li>Université catholique de Louvain</li>
<li>Université de Londres</li>
</orgName>
</list>
<tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Ostergaard, Pia" sort="Ostergaard, Pia" uniqKey="Ostergaard P" first="Pia" last="Ostergaard">Pia Ostergaard</name>
</region>
<name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name>
<name sortKey="Connell, Fiona C" sort="Connell, Fiona C" uniqKey="Connell F" first="Fiona C." last="Connell">Fiona C. Connell</name>
<name sortKey="Devery, Sophie" sort="Devery, Sophie" uniqKey="Devery S" first="Sophie" last="Devery">Sophie Devery</name>
<name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name>
<name sortKey="Makinen, Taija" sort="Makinen, Taija" uniqKey="Makinen T" first="Taija" last="Makinen">Taija Makinen</name>
<name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name>
<name sortKey="Martinez Corral, Ines" sort="Martinez Corral, Ines" uniqKey="Martinez Corral I" first="Ines" last="Martinez-Corral">Ines Martinez-Corral</name>
<name sortKey="Mcentagart, Meriel" sort="Mcentagart, Meriel" uniqKey="Mcentagart M" first="Meriel" last="Mcentagart">Meriel Mcentagart</name>
<name sortKey="Moore, Anthony T" sort="Moore, Anthony T" uniqKey="Moore A" first="Anthony T." last="Moore">Anthony T. Moore</name>
<name sortKey="Mortimer, Peter S" sort="Mortimer, Peter S" uniqKey="Mortimer P" first="Peter S." last="Mortimer">Peter S. Mortimer</name>
<name sortKey="Onoufriadis, Alexandros" sort="Onoufriadis, Alexandros" uniqKey="Onoufriadis A" first="Alexandros" last="Onoufriadis">Alexandros Onoufriadis</name>
<name sortKey="Quarrell, Oliver" sort="Quarrell, Oliver" uniqKey="Quarrell O" first="Oliver" last="Quarrell">Oliver Quarrell</name>
<name sortKey="Simpson, Michael A" sort="Simpson, Michael A" uniqKey="Simpson M" first="Michael A." last="Simpson">Michael A. Simpson</name>
<name sortKey="Trembath, Richard C" sort="Trembath, Richard C" uniqKey="Trembath R" first="Richard C." last="Trembath">Richard C. Trembath</name>
<name sortKey="Vasudevan, Pradeep" sort="Vasudevan, Pradeep" uniqKey="Vasudevan P" first="Pradeep" last="Vasudevan">Pradeep Vasudevan</name>
</country>
<country name="Belgique"><region name="Vienne (Autriche)"><name sortKey="Mendola, Antonella" sort="Mendola, Antonella" uniqKey="Mendola A" first="Antonella" last="Mendola">Antonella Mendola</name>
</region>
<name sortKey="Ghalamkarpour, Arash" sort="Ghalamkarpour, Arash" uniqKey="Ghalamkarpour A" first="Arash" last="Ghalamkarpour">Arash Ghalamkarpour</name>
<name sortKey="Laer, Lut Van" sort="Laer, Lut Van" uniqKey="Laer L" first="Lut Van" last="Laer">Lut Van Laer</name>
<name sortKey="Leroy, Jules G" sort="Leroy, Jules G" uniqKey="Leroy J" first="Jules G." last="Leroy">Jules G. Leroy</name>
<name sortKey="Loeys, Bart L" sort="Loeys, Bart L" uniqKey="Loeys B" first="Bart L." last="Loeys">Bart L. Loeys</name>
<name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name>
<name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name>
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   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
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   |clé=     Pascal:12-0150136
   |texte=   Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy
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	Serveur d'exploration sur le lymphœdème
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Serveur d'exploration sur le lymphœdème

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

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