Hypogammaglobulinemia in 2 children with Zhu-Tokita-Takenouchi-Kim syndrome

Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome is a rare genetic disorder caused by mutations in the SON gene (a gene located on the 21q22 chromosome), associated with multisystem involvement including brain abnormalities (typically hypoplasia or agenesis of corpus callosum and ventricular enlargement), cardiac and renal anomalies (such as atrial septal defects and vesicoureteral reflux), optic atrophy, craniofacial dysmorphism, musculoskeletal abnormalities (such as clinodactyly or syndactyly), and developmental delay/intellectual disability.
Source: Annals of Allergy, Asthma and Immunology - Category: Allergy & Immunology Authors: Tags: Letters Source Type: research