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.
作者信息
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, Gostyński A
机构信息
Department of Dermatology, Expertise Centre for Genodermatoses, Maastricht University Medical Centre+, Maastricht, The Netherlands.
GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.
出版信息
J Eur Acad Dermatol Venereol. 2023 Dec;37(12):e1405-e1409. doi: 10.1111/jdv.19340. Epub 2023 Jul 24.
PMID:37458571
Abstract
摘要
Zotero 插件