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Late-onset hereditary sensory and autonomic neuropathy type 2B caused by novel compound heterozygous mutations in FAM134B presenting as chronic recurrent ulcers on the soles.
Luo, Ze-Yu; Wang, Hui-Jun; Zhao, Yu-Kun; Liu, Juan-Hua; Chen, Ying-Ming; Lin, Zhi-Miao; Luo, Di-Qing.
Afiliação
  • Luo ZY; Department of Dermatology The East Division of The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
  • Wang HJ; Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses and National Clinical Research Center for Skin and Immune Diseases, Beijing, China.
  • Zhao YK; Department of Dermatology The East Division of The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
  • Liu JH; Department of Dermatology The East Division of The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
  • Chen YM; Department of Radiology, The East Division of The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
  • Lin ZM; Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses and National Clinical Research Center for Skin and Immune Diseases, Beijing, China.
  • Luo DQ; Department of Dermatology The East Division of The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
Indian J Dermatol Venereol Leprol ; 87(3): 455, 2021.
Article em En | MEDLINE | ID: mdl-33943063
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Texto completo: 1 Tema: Complicacoes / Geral / Prevencao_controle Bases de dados: MEDLINE Assunto principal: Úlcera Cutânea / Neuropatias Hereditárias Sensoriais e Autônomas / Peptídeos e Proteínas de Sinalização Intracelular / Proteínas de Membrana / Mutação Idioma: En Revista: Indian J Dermatol Venereol Leprol Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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Texto completo: 1 Tema: Complicacoes / Geral / Prevencao_controle Bases de dados: MEDLINE Assunto principal: Úlcera Cutânea / Neuropatias Hereditárias Sensoriais e Autônomas / Peptídeos e Proteínas de Sinalização Intracelular / Proteínas de Membrana / Mutação Idioma: En Revista: Indian J Dermatol Venereol Leprol Ano de publicação: 2021 Tipo de documento: Article