DOI: 10.1002/ccr3.73311 ISSN: 2050-0904
H Syndrome Associated With Pure Red Cell Aplasia, Rosai–Dorfman Disease, and Sensorineural Hearing Loss: Phenotypic Variability in Three Children With the Same
SLC29A3
Mutation
Mohammad Najajrah, Hadeel I. Bouzia, Nermin K. Darawi, Fatima S. Hajjaj, Nour H. Moosa, Noor M. Awad ABSTRACT
H syndrome is a rare autosomal recessive disorder caused by mutations in the SLC29A3 gene. We report three pediatric patients with a homozygous c.1309G>A (p.Gly437Arg) mutation presenting with distinct phenotypic variations. These cases expand the clinical spectrum and emphasize the importance of early genetic diagnosis and family counseling.