Prenatal Diagnosis of Autosomal Recessive Primary Microcephaly Type 2 Caused by Compound Heterozygous WDR62 Variants in a Family With Two Recurrent Cases
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Objective: Autosomal recessive microcephaly type 2 (MCPH2), caused by biallelic WDR62 variants, is a rare neurodevelopmental disorder typically described postnatally. We aimed to delineate its prenatal phenotype via data from two... ...