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

J Eur Acad Dermatol Venereol. 2023 Dec;37(12):e1405-e1409. doi: 10.1111/jdv.19340. Epub 2023 Jul 24.

S V J Rossel^{1

2}, J M K Clabbers^{1

2

3}, P M Steijlen^{1

2}, P C van den Akker⁴, P I Spuls⁵, M A Middelkamp Hup⁵, M C van Maarle⁶, M Vreeburg⁷, M C Bolling⁸, M van Geel^{1

2

7}, A Gostyński^{1

2}

¹ Department of Dermatology, Expertise Centre for Genodermatoses, Maastricht University Medical Centre+, Maastricht, The Netherlands.
² GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.
³ Department of Dermatology, Haga Hospital, The Hague, The Netherlands.
⁴ Department of Genetics, Expertise Centre for Genodermatoses, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.
⁵ Department of Dermatology, Amsterdam Public Health/Infection and Immunology, University of Amsterdam, Amsterdam University Medical Centre, Amsterdam, The Netherlands.
⁶ Department of Human Genetics, Amsterdam University Medical Centres, Amsterdam, The Netherlands.
⁷ Department of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, The Netherlands.
⁸ Department of Dermatology, Expertise Centre for Genodermatoses, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.

No abstract available

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