A Rare Cause of Primary Microcephaly: 4 New Variants in CDK5RAP2 Gene and Review of the Literature.

Abstract excerpt

Autosomal recessive primary microcephaly (MCPH) is a rare, genetically heterogeneous disorder characterized by congenital microcephaly, non-progressive intellectual disability, and absence of neurological abnormalities. Pathogenic variants in CDK5RAP2, linked to MCPH3, represent one of the least common causes of MCPH. Autosomal recessive primary microcephaly (MCPH) is a rare, genetically heterogeneous disorder...

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