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1 Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss [期刊论文]

来源：BMC Medical Genetics , 2020

作者:Kerry Phillips;Nicola K. Poplawski;Jinghua Feng;等

关键词:Neutropenia;Congenital neutropenia;...

使用许可:Unknown

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2 Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype [期刊论文]

来源：BMC Medical Genetics

作者:Michael O Woods;Kym M Boycott;Stephen W Scherer;等

关键词:SLC45A2 protein;Severe congenital neutropenia type 4 (SCN4);...

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3 Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype [期刊论文]

来源：BMC Medical Genetics

作者:Michael O Woods;Kym M Boycott;Stephen W Scherer;等

关键词:SLC45A2 protein;Severe congenital neutropenia type 4 (SCN4);...

预览  |  原文链接  |  全文  [ 浏览：0 下载：4  ]