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

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

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...

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Bibliographische Detailangaben
Veröffentlicht in:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 49(2011), 4 vom: 31. Apr., Seite 301-5
1. Verfasser: Feng, Dai-Rong (VerfasserIn)
Weitere Verfasser: Meng, Yan, Zhao, Shi-Min, Shi, Hui-Ping, Wang, Wei-Chen, Huang, Shang-Zhi
Format: Aufsatz
Sprache:Chinese
Veröffentlicht: 2011
Zugriff auf das übergeordnete Werk:Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:Case Reports Journal Article Research Support, Non-U.S. Gov't EIF2AK3 protein, human EC 2.7.11.1 eIF-2 Kinase