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.

Afiliação

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 em En | MEDLINE | ID: mdl-36929380

Assuntos

Hipotricose; Humanos; Hipotricose/genética; Proteínas Ribossômicas; Mutação de Sentido Incorreto; Linhagem

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hipotricose Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: Clin Exp Dermatol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Reino Unido

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