biostudies-literatureUnknown177(1)Boyden LMYale Center for Mendelian GenomicsNHGRI NIH HHSNational Institutes of HealthNIAMS NIH HHSThe British journal of dermatology319-322https://www.ebi.ac.uk/biostudies/studies/S-EPMC5522355biostudies-literaturePhenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.PMC5522355R01 AR068392U54 HG006504Rodriguez-Pazos LChoate KAYosipovitch GMilstone LMHu RHLim YLVega ARandolph LMVahidnezhad HKramer DPaller ASFachal LUitto JEichenfield LBrowning JYoussefian LCraiglow BGLuu MLifton RPGinarte MBoyden LMZhou JfalsePhenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.2017-01-01T00:00:00Z2017 Jul2025-04-19T22:43:27.632Z2025-04-19T22:43:27.632ZS-EPMC55223552840354510.1111/bjd.15570