Microcephaly‐lymphedema syndrome: Report of a family with short stature as additional manifestation
Identifieur interne : 002F22 ( Istex/Curation ); précédent : 002F21; suivant : 002F23Microcephaly‐lymphedema syndrome: Report of a family with short stature as additional manifestation
Auteurs : Sibylle Strenge [Allemagne] ; Ursula G. Froster [Allemagne]Source :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1998-12-28.
Abstract
Patients with the rare autosomal dominant microcephaly‐lymphedema syndrome have apparently normal intelligence. We report on a boy with microcephaly, lymphedema, and short stature as an additional manifestation. The family history of our patient suggests autosomal dominant inheritance with reduced penetrance and variable expressivity. However, X‐linked inheritance cannot be excluded. Am. J. Med. Genet. 80:506–509, 1998. © 1998 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/(SICI)1096-8628(19981228)80:5<506::AID-AJMG13>3.0.CO;2-1
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: Pour aller vers cette notice dans l'étape Curation :002F22
Links to Exploration step
ISTEX:64FE25E62163035F73824C25865E85A91EFD818CLe document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Microcephaly‐lymphedema syndrome: Report of a family with short stature as additional manifestation</title><author><name sortKey="Strenge, Sibylle" sort="Strenge, Sibylle" uniqKey="Strenge S" first="Sibylle" last="Strenge">Sibylle Strenge</name><affiliation wicri:level="1"><mods:affiliation>Institut für Humangenetik, Universität Leipzig, Leipzig, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institut für Humangenetik, Universität Leipzig, Leipzig</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Institut für Humangenetik, Universität Leipzig, Philipp‐Rosenthal‐Str. 55, D‐04103 Leipzig, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institut für Humangenetik, Universität Leipzig, Philipp‐Rosenthal‐Str. 55, D‐04103 Leipzig</wicri:regionArea></affiliation></author><author><name sortKey="Froster, Ursula G" sort="Froster, Ursula G" uniqKey="Froster U" first="Ursula G." last="Froster">Ursula G. Froster</name><affiliation wicri:level="1"><mods:affiliation>Institut für Humangenetik, Universität Leipzig, Leipzig, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institut für Humangenetik, Universität Leipzig, Leipzig</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:64FE25E62163035F73824C25865E85A91EFD818C</idno><date when="1998" year="1998">1998</date><idno type="doi">10.1002/(SICI)1096-8628(19981228)80:5<506::AID-AJMG13>3.0.CO;2-1</idno><idno type="url">https://api.istex.fr/document/64FE25E62163035F73824C25865E85A91EFD818C/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002F22</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">002F22</idno><idno type="wicri:Area/Istex/Curation">002F22</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Microcephaly‐lymphedema syndrome: Report of a family with short stature as additional manifestation</title><author><name sortKey="Strenge, Sibylle" sort="Strenge, Sibylle" uniqKey="Strenge S" first="Sibylle" last="Strenge">Sibylle Strenge</name><affiliation wicri:level="1"><mods:affiliation>Institut für Humangenetik, Universität Leipzig, Leipzig, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institut für Humangenetik, Universität Leipzig, Leipzig</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Institut für Humangenetik, Universität Leipzig, Philipp‐Rosenthal‐Str. 55, D‐04103 Leipzig, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institut für Humangenetik, Universität Leipzig, Philipp‐Rosenthal‐Str. 55, D‐04103 Leipzig</wicri:regionArea></affiliation></author><author><name sortKey="Froster, Ursula G" sort="Froster, Ursula G" uniqKey="Froster U" first="Ursula G." last="Froster">Ursula G. Froster</name><affiliation wicri:level="1"><mods:affiliation>Institut für Humangenetik, Universität Leipzig, Leipzig, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institut für Humangenetik, Universität Leipzig, Leipzig</wicri:regionArea></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><imprint><biblScope unit="vol">80</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="506">506</biblScope><biblScope unit="page" to="509">509</biblScope><biblScope unit="page-count">4</biblScope><publisher>John Wiley & Sons, Inc.</publisher><pubPlace>New York</pubPlace><date type="published" when="1998-12-28">1998-12-28</date></imprint><idno type="ISSN">0148-7299</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0148-7299</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Patients with the rare autosomal dominant microcephaly‐lymphedema syndrome have apparently normal intelligence. We report on a boy with microcephaly, lymphedema, and short stature as an additional manifestation. The family history of our patient suggests autosomal dominant inheritance with reduced penetrance and variable expressivity. However, X‐linked inheritance cannot be excluded. Am. J. Med. Genet. 80:506–509, 1998. © 1998 Wiley‐Liss, Inc.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Istex/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002F22 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Curation/biblio.hfd -nk 002F22 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= LymphedemaV1
|flux= Istex
|étape= Curation
|type= RBID
|clé= ISTEX:64FE25E62163035F73824C25865E85A91EFD818C
|texte= Microcephaly‐lymphedema syndrome: Report of a family with short stature as additional manifestation
}}
| This area was generated with Dilib version V0.6.31. |  |