A Homozygotic Mutation in <i>KDSR</i> may Cause Keratinization Disorders and Thrombocytopenia: A Case Report.

Liu, Chao; Chen, Xiao Yan; Wu, Wen Qi; Zhu, Xiao Fan

A Homozygotic Mutation in KDSR may Cause Keratinization Disorders and Thrombocytopenia: A Case Report.

Liu, Chao; Chen, Xiao Yan; Wu, Wen Qi; Zhu, Xiao Fan.

Afiliação

Liu C; State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 300020 Tianjin, China.
Chen XY; State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 300020 Tianjin, China.
Wu WQ; State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 300020 Tianjin, China.
Zhu XF; State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, 300020 Tianjin, China.

Chin Med Sci J ; 35(3): 278-282, 2020 Sep 30.

Article em En | MEDLINE | ID: mdl-32972506

Assuntos

Queratinas/metabolismo; Mutação/genética; Oxirredutases/genética; Trombocitopenia/complicações; Trombocitopenia/genética; Homozigoto; Humanos; Lactente; Recém-Nascido; Masculino; Trombocitopenia/enzimologia

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Oxirredutases / Trombocitopenia / Queratinas / Mutação Tipo de estudo: Risk_factors_studies Limite: Humans / Infant / Male / Newborn Idioma: En Revista: Chin Med Sci J Assunto da revista: TERAPIAS COMPLEMENTARES Ano de publicação: 2020 Tipo de documento: Article País de afiliação: China País de publicação: China

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