article · 2025
P428: A case of neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities due to a de novo heterozygous ZMYM2 pathogenic variant
Case Presentation: A 16-month-old male presented in 1997 for evaluation of bilateral aniridia, microcephaly, external ear malformations, and developmental de...
0 citationsDOI: https://doi.org/10.1016/j.gimo.2025.103295Open accessPDF reported by metadataFull text reported by metadata