Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene
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DOI: 10.3390/genes12040594
Abstract: 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… read more here.
Keywords: wdr62 gene; primary microcephaly; phenotype genotype; mutations wdr62 ... See more keywords