Article

Phenotypes and genotypes in outbred and inbred Primary microcephaly: high incidence of epilepsy

2021-01-04

Abstract excerpt

Primary microcephaly (PM) is defined as a significant reduction in occipito-frontal circumference (OFC) of prenatal onset. Clinical and genetic heterogeneity of PM represents a diagnostic challenge. We performed detailed phenotypic and genomic analyses in a large cohort (n=169) of patients referred for PM, and could establish a molecular diagnosis in 38 patients. Pathogenic variants in ASPM and WDR62 were the most...

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Literature Corpus work: 7468e5ab-fb43-5925-ba9b-66c48e32828a
DOI: 10.22541/au.160978661.19941555/v1

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