Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder
Genet Med. 2024 Sep 20:101278. doi: 10.1016/j.gim.2024.101278. Online ahead of print. ABSTRACT PURPOSE: Biallelic INPP4A variants have recently been associated with severe neurodevelopmental disease in …