" /> Ataxia-Pancytopenia Syndrome - CISMeF





Preferred Label : Ataxia-Pancytopenia Syndrome;

NCIt synonyms : ATXPC;

NCIt definition : An inherited condition caused by autosomal dominant mutation(s) in the SAMD9L gene, encoding sterile alpha motif domain-containing protein 9-like. The condition is characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to bone marrow failure and myeloid leukemia.;

Détails


Vous pouvez consulter :


Nous contacter.
26/07/2025


[Accueil] [Haut de page]

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