Homozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intellectual disability
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DOI: 10.1136/jmedgenet-2020-107518
Abstract: Background Minichromosomal maintenance (MCM) complex components 2, 4, 5 and 6 have been linked to human disease with phenotypes including microcephaly and intellectual disability. The MCM complex has DNA helicase activity and is thereby important… read more here.
Keywords: microcephaly intellectual; intellectual disability; autosomal recessive; recessive primary ... See more keywords