Novel KIT mutation presenting as marked lentiginosis.

Tran, Alain K; Pearce, Annette; López-Sánchez, Marcos; Pérez-Jurado, Luis A; Barnett, Christopher

Tran, Alain K; Pearce, Annette; López-Sánchez, Marcos; Pérez-Jurado, Luis A; Barnett, Christopher.

Afiliación

Tran AK; Flinders Medical Centre, Adelaide, South Australia, Australia.
Pearce A; Adelaide Dermatology Associates, Western Hospital, Henley Beach, South Australia, Australia.
López-Sánchez M; Hospital del Mar Research Institute (IMIM), Network Centre for Biomedical Research in Rare Diseases (CIBERER) and Universitat Pompeu Fabra, Barcelona, Spain.
Pérez-Jurado LA; Hospital del Mar Research Institute (IMIM), Network Centre for Biomedical Research in Rare Diseases (CIBERER) and Universitat Pompeu Fabra, Barcelona, Spain.
Barnett C; South Australian Health and Medical Research Institute, University of Adelaide, Adelaide, South Australia, Australia.

Pediatr Dermatol ; 36(6): 922-925, 2019 Nov.

Article en En | MEDLINE | ID: mdl-31497890

Asunto(s)

Lentigo/genética; Mutación Missense; Proteínas Proto-Oncogénicas c-kit/genética; Niño; Femenino; Humanos; Secuenciación del Exoma

Palabras clave

developmental defects; dyspigmentation; genetic diseases; mechanisms

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas Proto-Oncogénicas c-kit / Mutación Missense / Lentigo Límite: Child / Female / Humans Idioma: En Revista: Pediatr Dermatol Año: 2019 Tipo del documento: Article País de afiliación: Australia

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