ArticleCureus2025

The First Known Case Report of a Novel Homozygous Nonsense Variant in the OSBPL9 Gene Associated With Fetal Cerebral Ventriculomegaly, Cerebellar Hypoplasia, and Arthrogryposis Multiplex.

Parag M Tamhankar et al.PubMed ↗Full text ↗Publisher ↗

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