" /> Bohring-Opitz Syndrome - CISMeF





Preferred Label : Bohring-Opitz Syndrome;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the ASXL1 gene, encoding putative polycomb group protein ASXL1. It is characterized by severe intrauterine growth retardation, profound mental retardation, craniofacial dysmorphisms, and flexion deformities of the upper limbs.;

Détails


Vous pouvez consulter :


Nous contacter.
31/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.