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Wolcott–Rallison syndrome : ウィキペディア英語版 | Wolcott–Rallison syndrome
Wolcott–Rallison syndrome abbreviated as WRS is a rare, autosomal recessive disorder with infancy-onset diabetes mellitus, multiple epiphyseal dysplasia, osteopenia, mental retardation or developmental delay, and hepatic and renal dysfunction as main clinical findings. Patients with WRS have mutations in the EIF2AK3 gene, which encodes the pancreatic eukaryotic translation initiation factor 2-alpha kinase 3. Of the 54 families worldwide with reported cases of WRS, 22.2% of them are from the Kingdom of Saudi Arabia. Of the 23 WRS patients in Saudi Arabia, all but one are the result of consanguineous marriages.〔 The majority of these WRS patients die from fulminant hepatitis during childhood.〔 ==References==
抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)』 ■ウィキペディアで「Wolcott–Rallison syndrome」の詳細全文を読む
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