Novel compound heterozygous indel ZMPSTE24 mutations in a Taiwanese male infant with restrictive dermopathy.

Hsu, Tzu-Chien; Yu, Pei-Hsiu; Chang, Yi-Han; Guevara, Bryan Edgar K; Tsai, Meng-Che; Yang, Mei-Hui; Tsai, Pei-Yin; Lee, Julia Yu-Yun; Chao, Sheau-Chiou; Hsu, Chao-Kai

Hsu, Tzu-Chien; Yu, Pei-Hsiu; Chang, Yi-Han; Guevara, Bryan Edgar K; Tsai, Meng-Che; Yang, Mei-Hui; Tsai, Pei-Yin; Lee, Julia Yu-Yun; Chao, Sheau-Chiou; Hsu, Chao-Kai.

Afiliación

Hsu TC; Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan.
Yu PH; Department of Obstetrics and Gynecology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan.
Chang YH; Department of Obstetrics and Gynecology, Kuo General Hospital, Tainan, Taiwan.
Guevara BEK; Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan.
Tsai MC; International Research Center of Wound Repair and Regeneration (iWRR), National Cheng Kung University, Tainan, Taiwan.
Yang MH; Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan.
Tsai PY; Department of Dermatology, Southern Philippines Medical Center, Davao, Philippines.
Lee JY; Department of Pediatrics, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan.
Chao SC; Department of Dermatology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan.
Hsu CK; Department of Obstetrics and Gynecology, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, Tainan, Taiwan.

J Dermatol ; 49(8): e280-e282, 2022 08.

Article en En | MEDLINE | ID: mdl-35491649

Asunto(s)

Metaloendopeptidasas; Anomalías Cutáneas; Humanos; Lactante; Lamina Tipo A/genética; Masculino; Proteínas de la Membrana/genética; Metaloendopeptidasas/genética; Mutación; Anomalías Cutáneas/genética

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Cutáneas / Metaloendopeptidasas Límite: Humans / Infant / Male Idioma: En Revista: J Dermatol Año: 2022 Tipo del documento: Article País de afiliación: Taiwán Pais de publicación: ENGLAND / ESCOCIA / GB / GREAT BRITAIN / INGLATERRA / REINO UNIDO / SCOTLAND / UK / UNITED KINGDOM

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