Prenatal Diagnosis of Lissencephaly Associated with Biallelic Pathologic Variants in the COQ2 Gene.
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DOI: 10.20344/amp.18606
Abstract: Primary CoQ10 deficiency comprises several clinical phenotypes. Nevertheless, there are no reports so far of lissencephaly linked to CoQ10 deficiency. Lissencephaly is a developmental condition associated with defective neuronal migration which may be depicted on… read more here.
Keywords: lissencephaly; variants coq2; pathologic variants; biallelic pathologic ... See more keywords