Cono-spondylar dysplasia: Clinical, radiographic, and molecular findings of a previously unreported disorder.

Détails

ID Serval
serval:BIB_C1FABD4106F9
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Cono-spondylar dysplasia: Clinical, radiographic, and molecular findings of a previously unreported disorder.
Périodique
American Journal of Medical Genetics. Part A
Auteur(s)
Ben-Omran T., Lakhani S., Almureikhi M., Ali R., Takahashi A., Miyake N., Matsumoto N., Ikegawa S., Superti-Furga A., Unger S.
ISSN
1552-4833 (Electronic)
ISSN-L
1552-4825
Statut éditorial
Publié
Date de publication
2014
Peer-reviewed
Oui
Volume
164
Numéro
9
Pages
2147-2152
Langue
anglais
Notes
Publication types: Journal Article Publication Status: ppublish
Résumé
We report on a consanguineous Arab family in which three sibs had an unusual skeletal dysplasia characterized by anterior defects of the spine leading to severe lumbar kyphosis and marked brachydactyly with cone epiphyses. The clinical phenotype also included dysmorphic facial features, epilepsy, and developmental delay. This constellation likely represents a previously undescribed skeletal dysplasia, most probably inherited in an autosomal recessive pattern. A homozygosity mapping approach has thus far failed to unearth the responsible gene as the region shared by these three sibs is 27.7 Mb in size and contains over 200 genes with no obvious candidate.
Pubmed
Web of science
Création de la notice
19/09/2014 18:53
Dernière modification de la notice
03/03/2018 21:09
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