Nonsyndromic erythrodermic ichthyosis resulting from a homozygous mutation in PIGL.

Onoufriadis, A; Simpson, J K; McDonald, C; Nguyen, T T M; Campeau, P M; Simpson, M A; Martinez, A E; McGrath, J A

Onoufriadis, A; Simpson, J K; McDonald, C; Nguyen, T T M; Campeau, P M; Simpson, M A; Martinez, A E; McGrath, J A.

Afiliación

Onoufriadis A; St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, UK.
Simpson JK; St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, UK.
McDonald C; Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.
Nguyen TTM; Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, Canada.
Campeau PM; Centre Hospitalier Universitaire Sainte-Justine Research Center, University of Montreal, Montreal, Canada.
Simpson MA; Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King's College London, London, UK.
Martinez AE; Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.
McGrath JA; St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, UK.

Clin Exp Dermatol ; 45(3): 391-394, 2020 Apr.

Article en En | MEDLINE | ID: mdl-31535386

Asunto(s)

Dermatitis Exfoliativa/genética; Ictiosis/genética; Mutación; N-Acetilglucosaminiltransferasas/genética; Preescolar; Dermatitis Exfoliativa/complicaciones; Femenino; Homocigoto; Humanos; Ictiosis/complicaciones; Lactante; Linaje

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: N-Acetilglucosaminiltransferasas / Dermatitis Exfoliativa / Ictiosis / Mutación Límite: Child, preschool / Female / Humans / Infant Idioma: En Revista: Clin Exp Dermatol Año: 2020 Tipo del documento: Article País de afiliación: Reino Unido

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google