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Article

Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors.

American journal of human genetics - 12 Aug 2011

Poulton Cathryn J, Schot Rachel, Kia Sima Kheradmand, Jones Marta, Verheijen Frans W, Venselaar Hanka, de Wit Marie-Claire Y, de Graaff Esther, Bertoli-Avella Aida M, Mancini Grazia M S

Abstract excerpt

We describe a syndrome of primary microcephaly with simplified gyral pattern in combination with severe infantile epileptic encephalopathy and early-onset permanent diabetes in two unrelated consanguineous families with at least three affected children. Linkage analysis revealed a region on chromosome 18 with a significant LOD score of 4.3. In this area, two homozygous nonconserved missense mutations in immediate...

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Identifiers

PMID: 21835305
DOI: 10.1016/j.ajhg.2011.07.006
PMCID: PMC3155199

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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