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Article

Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction.

European journal of human genetics : EJHG - 1 Sept 2017

Carroll Renée, Kumar Raman, Shaw Marie, Slee Jennie, Kalscheuer Vera M, Corbett Mark A, Gecz Jozef

Abstract excerpt

Congenital microcephaly, with or without additional developmental defects, is a heterogeneous disorder resulting from impaired brain development during early fetal life. The majority of causative genetic variants identified thus far are inherited in an autosomal recessive manner and impact key cellular pathways such as mitosis, DNA damage response and repair, apoptosis and splicing. Here, we report a novel donor...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28612833
DOI: 10.1038/ejhg.2017.97
PMCID: PMC5558180

Genes

GPKOW

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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