Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions.

Rossel, S V J; Clabbers, J M K; Steijlen, P M; van den Akker, P C; Spuls, P I; Middelkamp Hup, M A; van Maarle, M C; Vreeburg, M; Bolling, M C; van Geel, M; Gostynski, A

Rossel, S V J; Clabbers, J M K; Steijlen, P M; van den Akker, P C; Spuls, P I; Middelkamp Hup, M A; van Maarle, M C; Vreeburg, M; Bolling, M C; van Geel, M; Gostynski, A.

Afiliación

Rossel SVJ; Department of Dermatology, Expertise Centre for Genodermatoses, Maastricht University Medical Centre+, Maastricht, The Netherlands.
Clabbers JMK; GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.
Steijlen PM; Department of Dermatology, Expertise Centre for Genodermatoses, Maastricht University Medical Centre+, Maastricht, The Netherlands.
van den Akker PC; GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.
Spuls PI; Department of Dermatology, Haga Hospital, The Hague, The Netherlands.
Middelkamp Hup MA; Department of Dermatology, Expertise Centre for Genodermatoses, Maastricht University Medical Centre+, Maastricht, The Netherlands.
van Maarle MC; GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.
Vreeburg M; Department of Genetics, Expertise Centre for Genodermatoses, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.
Bolling MC; Department of Dermatology, Amsterdam Public Health/Infection and Immunology, University of Amsterdam, Amsterdam University Medical Centre, Amsterdam, The Netherlands.
van Geel M; Department of Dermatology, Amsterdam Public Health/Infection and Immunology, University of Amsterdam, Amsterdam University Medical Centre, Amsterdam, The Netherlands.
Gostynski A; Department of Human Genetics, Amsterdam University Medical Centres, Amsterdam, The Netherlands.

J Eur Acad Dermatol Venereol ; 37(12): e1405-e1409, 2023 Dec.

Article en En | MEDLINE | ID: mdl-37458571

Asunto(s)

Ictiosis Lamelar; Humanos; Aciltransferasas; Genes Recesivos; Ictiosis Lamelar/genética; Mutación; Fosfolipasas

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ictiosis Lamelar Límite: Humans Idioma: En Revista: J Eur Acad Dermatol Venereol Asunto de la revista: DERMATOLOGIA / DOENCAS SEXUALMENTE TRANSMISSIVEIS Año: 2023 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Reino Unido

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