Biallelic mutations in LSS in autosomal-recessive mutilating palmoplantar keratoderma.

Zhou, Shengru; Jiang, Xingyuan; Zhu, Yuhao; Yang, Jianqiu; Yuan, Chunyu; Chen, Min; Zhou, Qianqian; Lin, Zhimiao; Li, Min

Zhou, Shengru; Jiang, Xingyuan; Zhu, Yuhao; Yang, Jianqiu; Yuan, Chunyu; Chen, Min; Zhou, Qianqian; Lin, Zhimiao; Li, Min.

Afiliación

Zhou S; Department of Dermatology, Dushu Lake Hospital Affiliated to Soochow University (Medical Center of Soochow University, Suzhou Dushu Lake Hospital), Suzhou, China.
Jiang X; Department of Dermatology, Peking University First Hospital; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses; National Clinical Research Centre for Skin and Immune Diseases, Beijing, China.
Zhu Y; State Key Laboratory of Natural and Biomimetic Drugs, School of Pharmaceutical Sciences, Peking University, Beijing, China.
Yang J; Department of Dermatology, Dushu Lake Hospital Affiliated to Soochow University (Medical Center of Soochow University, Suzhou Dushu Lake Hospital), Suzhou, China.
Yuan C; Department of Dermatology, Dushu Lake Hospital Affiliated to Soochow University (Medical Center of Soochow University, Suzhou Dushu Lake Hospital), Suzhou, China.
Chen M; Department of Dermatology, Dushu Lake Hospital Affiliated to Soochow University (Medical Center of Soochow University, Suzhou Dushu Lake Hospital), Suzhou, China.
Zhou Q; Department of Dermatology, Dushu Lake Hospital Affiliated to Soochow University (Medical Center of Soochow University, Suzhou Dushu Lake Hospital), Suzhou, China.
Lin Z; Department of Dermatology, Peking University First Hospital; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses; National Clinical Research Centre for Skin and Immune Diseases, Beijing, China.
Li M; Dermatology Hospital, Southern Medical University, Guangzhou, China.

Exp Dermatol ; 32(5): 699-706, 2023 05.

Article en En | MEDLINE | ID: mdl-36811447

Asunto(s)

Hipotricosis; Queratodermia Palmoplantar; Masculino; Humanos; Adulto; Alopecia/genética; Hipotricosis/genética; Mutación; Queratodermia Palmoplantar/genética; Linaje

Palabras clave

LSS; cholesterol; lanosterol synthase; mutation; palmoplantar keratoderma

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Queratodermia Palmoplantar / Hipotricosis Tipo de estudio: Prognostic_studies Límite: Adult / Humans / Male Idioma: En Revista: Exp Dermatol Asunto de la revista: DERMATOLOGIA Año: 2023 Tipo del documento: Article País de afiliación: China

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