Novel compound heterozygous mutations of the COL7A1 gene in a Chinese patient with recessive dystrophic epidermolysis bullosa pruriginosa and digestive symptoms successfully treated with tofacitinib.

Zhou, Xingli; Geng, Jia; Wang, Minjin; Yang, Jinlin; Zou, Jian; Li, Wei

Zhou, Xingli; Geng, Jia; Wang, Minjin; Yang, Jinlin; Zou, Jian; Li, Wei.

Afiliación

Zhou X; Department of Dermatology & Venerology, Rare Diseases Center, West China Hospital, Sichuan University, Chengdu, China.
Geng J; Institute of Rare Diseases, West China Hospital, Sichuan University, Chengdu, China.
Wang M; Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu, China.
Yang J; Department of Neurology, West China Hospital, Sichuan University, Chengdu, China.
Zou J; Department of Gastroenterology and Hepatology, West China Hospital, Sichuan University, Chengdu, China.
Li W; Department of Otolaryngology-Head & Neck Surgery, West China Hospital, Sichuan University, Chengdu, China.

J Dermatol ; 51(1): e8-e10, 2024 Jan.

Article en En | MEDLINE | ID: mdl-37724795

Asunto(s)

Epidermólisis Ampollosa Distrófica; Humanos; China; Colágeno Tipo VII/genética; Epidermólisis Ampollosa Distrófica/complicaciones; Epidermólisis Ampollosa Distrófica/tratamiento farmacológico; Epidermólisis Ampollosa Distrófica/genética; Genes Recesivos; Mutación; Linaje; Fenotipo

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Epidermólisis Ampollosa Distrófica Tipo de estudio: Diagnostic_studies País/Región como asunto: Asia Idioma: En Revista: J Dermatol Año: 2024 Tipo del documento: Article

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