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Article

Primary hypothyroidism and nipple hypoplasia in a girl with Wolcott-Rallison syndrome.

European journal of pediatrics - 1 Apr 2014

Spehar Uroić Anita, Mulliqi Kotori Vjosa, Rojnić Putarek Nataša, Kušec Vesna, Dumić Miroslav

Abstract excerpt

UNLABELLED: Wolcott-Rallison syndrome (WRS), caused by mutation in the EIF2AK3 gene encoding the PERK enzyme, is the most common cause of permanent neonatal diabetes mellitus (PNDM) in consanguineous families and isolated populations. Besides PNDM, it also includes skeletal abnormalities, liver and renal dysfunction, and other inconsistently present features. We present two siblings, who are WRS patients, and are...

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Identifiers

PMID: 24194294
DOI: 10.1007/s00431-013-2189-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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