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Article

A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).

American journal of medical genetics. Part A - 1 Nov 2012

Abdel-Salam Ghada M H, Schaffer Ashleigh E, Zaki Maha S, Dixon-Salazar Tracy, Mostafa Inas S, Afifi Hanan H, Gleeson Joseph G

Abstract excerpt

Wolcott-Rallison syndrome (WRS) and the recently delineated microcephaly with simplified gyration, epilepsy, and permanent neonatal diabetes syndrome (MEDS) are clinically overlapping autosomal recessive disorders characterized by early onset diabetes, skeletal defects, and growth retardation. While liver and renal symptoms are more severe in WRS, neurodevelopmental characteristics are more pronounced in MEDS...

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Identifiers

PMID: 22991235
DOI: 10.1002/ajmg.a.35583
PMCID: PMC3477270

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

Source receipt: pubmed, retrieved 5 Sept 2026.

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