" /> Schimke Immunoosseous Dysplasia - CISMeF





Preferred Label : Schimke Immunoosseous Dysplasia;

NCIt synonyms : Schimke Immuno-Osseous Dysplasia;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the SMARCAL1 gene, encoding SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1. It is characterized by short stature, intrauterine growth restriction, microdontia, depressed nasal bridge, skeletal dysplasia, immune complex nephritis and immune deficiency.;

Details


You can consult :


Nous contacter.
03/05/2025


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.