A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family
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DOI: 10.3390/genes12101494
Abstract: Primary microcephaly (MCPH) is a prenatal condition of small brain size with a varying degree of intellectual disability. It is a heterogeneous genetic disorder with 28 associated genes reported so far. Most of these genes… read more here.
Keywords: homozygous akna; frameshift; akna frameshift; family ... See more keywords