Suggestions

Du même auteur

Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3

Archive ouverte | Bizzari, Sami | CCSD

International audience. We have previously reported on a consanguineous family where 2 siblings, a girl and a boy, presented with tall stature, long and triangular faces, prominent forehead, telecanthus, ptosis, eve...

Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases

Archive ouverte | Nair, Pratibha | CCSD

International audience

A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22)

Archive ouverte | Mégarbané, André | CCSD

International audience

Chargement des enrichissements...