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Article

Genetic variation in MKL2 and decreased downstream PCTAIRE1 expression in extreme, fatal primary human microcephaly.

Clinical genetics - 1 May 2014

Ramos E I, Bien-Willner G A, Li J, Hughes A E O, Giacalone J, Chasnoff S, Kulkarni S, Parmacek M, Cole F S, Druley T E

Abstract excerpt

The genetic mechanisms driving normal brain development remain largely unknown. We performed genomic and immunohistochemical characterization of a novel, fatal human phenotype including extreme microcephaly with cerebral growth arrest at 14-18 weeks gestation in three full sisters born to healthy, non-consanguineous parents. Analysis of index cases and parents included familial exome sequencing, karyotyping, and...

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PMID: 23692340
DOI: 10.1111/cge.12197
PMCID: PMC3929543

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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