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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
P428: A case of neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities due to a de novo heterozygous ZMYM2 pathogenic variant