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Article

Novel biallelic ZNF335 variant causing primary microcephaly: A case report and radiological review.

American journal of medical genetics. Part A - 1 Aug 2024

Patel Dhrumil Deveshkumar, Gripp Karen W, Wadman Erin, Mishra Ishita, Kandula Vinay

Abstract excerpt

Biallelic pathogenic variants in ZNF335 are one of the genetic causes of microcephaly, reported only in the past decade. It regulates neural progenitor proliferation and neurogenesis by interacting with a H3K4 methyltransferase complex. Biallelic pathogenic ZNF335 variants predispose to neuronal cell death and aberrant differentiation, thus causing secondary microcephaly. These neurodevelopmental anomalies lead...

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PMID: 38549403
DOI: 10.1002/ajmg.a.63593

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