ReviewMolecular genetics & genomic medicine2024

A Novel Homozygote Pathogenic Variant in the DIAPH1 Gene Associated With Seizures, Cortical Blindness, and Microcephaly Syndrome (SCBMS): Report of a Family and Literature Review.

Emran Esmaeilzadeh et al.PubMed ↗Full text ↗Publisher ↗

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