“Novel ZMIZ1 Variant Linked to Rare Neurodevelopmental Disorder and Genitourinary Anomalies in Chinese Family”

https://pubmed.ncbi.nlm.nih.gov/38117436

This study identifies a novel ZMIZ1 variant causing a Chinese family to have a rare neurodevelopmental disorder with dysmorphic factors and distal skeletal anomalies, as well as previously unreported genitourinary system anomalies.