Wolcott‑Rallison syndrome due to the same mutation in EIF2AK3 (c.205G>T) in two unrelated families: A case report
نویسندگان
چکیده
منابع مشابه
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15 صفحه اولWolcott-Rallison Syndrome Due to a Novel Mutation (R491X) in EIF2AK3 Gene
Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by early-onset diabetes, spondyloepiphyseal dysplasia, tendency to skeletal fractures secondary to osteopenia, and growth retardation. Mutations in the eukaryotic translation initiation factor 2α kinase (EIF2AK3) gene are responsible for this disorder. Here, we describe a boy with neonatal diabetes, diagnosed ...
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ژورنال
عنوان ژورنال: Experimental and Therapeutic Medicine
سال: 2019
ISSN: 1792-0981,1792-1015
DOI: 10.3892/etm.2019.7268