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RPL26 variants: a rare cause of Diamond-Blackfan Anemia Syndrome with multiple congenital anomalies at the forefront

Archive ouverte | Vanlerberghe, Clémence | CCSD

International audience. PurposeDiamond-Blackfan Anemia Syndrome (DBS) is a rare congenital disorder originally characterized by bone marrow failure with or without various congenital anomalies. At least 24 genes are...

Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations

Archive ouverte | Jourdain, Anne-Sophie | CCSD

International audience. Congenital limb malformations (CLM) comprise many conditions affecting limbs and more than 150 associated genes have been reported. Due to this large heterogeneity, a high proportion of patie...

Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1

Archive ouverte | Ghoumid, Jamal | CCSD

PURPOSE: Blepharocheilodontic (BCD) syndrome is a rare autosomal dominant condition characterized by eyelid malformations, cleft lip/palate, and ectodermal dysplasia. The molecular basis of BCD syndrome remains unknown. METHODS: W...

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