Acampomelic Form of Campomelic Dysplasia with SOX9 Missense Mutation.

Détails

ID Serval
serval:BIB_D60C135BCF00
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Acampomelic Form of Campomelic Dysplasia with SOX9 Missense Mutation.
Périodique
Indian Journal of Pediatrics
Auteur(s)
Gopakumar H., Superti-Furga A., Unger S., Scherer G., Rajiv P.K., Nampoothiri S.
ISSN
0973-7693 (Electronic)
ISSN-L
0019-5456
Statut éditorial
Publié
Date de publication
2014
Volume
81
Numéro
1
Pages
98-100
Langue
anglais
Notes
Publication types: Journal ArticlePublication Status: ppublish. pdf type: case report
Résumé
Campomelic dysplasia is a skeletal dysplasia characterized by flat face, Pierre Robin sequence, shortening and bowing of long bones and club feet. The authors describe a case of "acampomelic" campomelic dysplasia that differs from classical campomelic dysplasia by the absence of bone bowing. This condition is among the most common skeletal dysplasias but is often misdiagnosed in the absence of overt campomelia.
Pubmed
Web of science
Création de la notice
07/02/2014 18:18
Dernière modification de la notice
20/08/2019 15:55
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