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Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene.

Genes - 19 Apr 2021

Slezak Ryszard, Smigiel Robert, Obersztyn Ewa, Pollak Agnieszka, Dawidziuk Mateusz, Wiszniewski Wojciech, Bekiesinska-Figatowska Monika, Rydzanicz Malgorzata, Ploski Rafal, Gawlinski Pawel

Abstract excerpt

Type 2 congenital microcephaly (MCPH2) is a brain development disorder characterized by primary microcephaly with or without brain malformations. MCPH2 is caused by mutations in the WDR62 gene. We present three new patients with MCPH2 and compound heterozygous mutations in the WDR62 gene. In all the cases, the parents were healthy and unrelated. All children were clinically diagnosed with congenital microcephaly...

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Identifiers

PMID: 33921653
DOI: 10.3390/genes12040594
PMCID: PMC8072659

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Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene.PMID 33921653Read ↗

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