Correction to ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

Archive ouverte | Carapito, Raphaël | CCSD

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features

Archive ouverte | Carapito, Raphael | CCSD

International audience

A pleiotropic recurrent dominant ITPR3 variant causes a complex multisystemic disease

Archive ouverte | Molitor, Anne | CCSD

International audience. Inositol 1,4,5-trisphosphate (IP3) receptor type 1 ( ITPR1 ), 2 ( ITPR2 ), and 3 ( ITPR3 ) encode the IP3 receptor (IP3R), a key player in intracellular calcium release. In four unrelated pat...