Suggestions

Du même auteur

Growth charts in Kabuki syndrome 1

Archive ouverte | Ruault, Valentin | CCSD

International audience. Abstract Kabuki syndrome (KS, KS1: OMIM 147920 and KS2: OMIM 300867) is caused by pathogenic variations in KMT2D or KDM6A . KS is characterized by multiple congenital anomalies and neurodevel...

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

Archive ouverte | Laquerriere, Annie | CCSD

BACKGROUND: Arthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagno...

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

Archive ouverte | Vincent, Marie | CCSD

International audience. Purpose - Treacher Collins/Franceschetti syndrome (TCS; OMIM 154500) is a disorder of craniofacial development belonging to the heterogeneous group of mandibulofacial dysostoses. TCS is class...

Chargement des enrichissements...