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[Two novel EIF2AK3 mutations in a Chinese boy with Wolcott-Rallison syndrome].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Apr 2011

Feng Dai-Rong, Meng Yan, Zhao Shi-Min, Shi Hui-Ping, Wang Wei-Chen, Huang Shang-Zhi

Abstract excerpt

OBJECTIVE: Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by the association of permanent neonatal or early-infancy insulin-dependent diabetes, multiple epiphyseal dysplasia and growth retardation, and other variable multisystem clinical manifestations. Here we describe a Chinese boy affected by WRS. Genetic testing of his EIF2AK3 gene was performed in order to elucidate...

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PMID: 21624209

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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