Syndromic inherited poikiloderma due to a de novo mutation in FAM111B.

Takeichi, T; Nanda, A; Yang, H-S; Hsu, C-K; Lee, J Y-Y; Al-Ajmi, H; Akiyama, M; Simpson, M A; McGrath, J A

Takeichi, T; Nanda, A; Yang, H-S; Hsu, C-K; Lee, J Y-Y; Al-Ajmi, H; Akiyama, M; Simpson, M A; McGrath, J A.

Afiliação

Takeichi T; St John's Institute of Dermatology, King's College London, Guy's Hospital, London, U.K.
Nanda A; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Yang HS; As'ad Al-Hamad Dermatology Center, Al-Sabah Hospital, Kuwait.
Hsu CK; Department of Dermatology, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan.
Lee JY; Department of Dermatology, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan.
Al-Ajmi H; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Akiyama M; Department of Dermatology, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan.
Simpson MA; As'ad Al-Hamad Dermatology Center, Al-Sabah Hospital, Kuwait.
McGrath JA; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

Br J Dermatol ; 176(2): 534-536, 2017 02.

Article em En | MEDLINE | ID: mdl-27406236

Assuntos

Proteínas de Ciclo Celular/genética; Contratura/genética; Mutação de Sentido Incorreto/genética; Fibrose Pulmonar/genética; Esclerose/genética; Anormalidades da Pele/genética; Dermatopatias Genéticas/genética; Adolescente; Feminino; Humanos; Síndrome

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fibrose Pulmonar / Esclerose / Anormalidades da Pele / Dermatopatias Genéticas / Proteínas de Ciclo Celular / Contratura / Mutação de Sentido Incorreto Idioma: En Ano de publicação: 2017 Tipo de documento: Article

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