A novel heterozygous missense variant in ribosomal protein L21 associated with familial hypotrichosis simplex.

Rayinda, Tuntas; McSweeney, Sheila M; Fassihi, Hiva; Fenton, David; Liu, Lu; Stefanato, Catherine M; Dand, Nick; McGrath, John A; Tziotzios, Christos

Rayinda, Tuntas; McSweeney, Sheila M; Fassihi, Hiva; Fenton, David; Liu, Lu; Stefanato, Catherine M; Dand, Nick; McGrath, John A; Tziotzios, Christos.

Afiliación

Rayinda T; St John's Institute of Dermatology, King's College London, UK.
McSweeney SM; Department of Dermatology and Venereology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia.
Fassihi H; St John's Institute of Dermatology, King's College London, UK.
Fenton D; St John's Institute of Dermatology, King's College London, UK.
Liu L; St John's Institute of Dermatology, King's College London, UK.
Stefanato CM; Viapath, Guy's and St Thomas' NHS Foundation Trust, London, UK.
Dand N; St John's Institute of Dermatology, King's College London, UK.
McGrath JA; Department of Medical and Molecular Genetics, King's College London, London, UK.
Tziotzios C; St John's Institute of Dermatology, King's College London, UK.

Clin Exp Dermatol ; 48(7): 840-843, 2023 07 07.

Article en En | MEDLINE | ID: mdl-36929380

Asunto(s)

Hipotricosis; Humanos; Hipotricosis/genética; Proteínas Ribosómicas; Mutación Missense; Linaje

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Hipotricosis Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Clin Exp Dermatol Año: 2023 Tipo del documento: Article

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