Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.

TitlePhenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.
Publication TypeJournal Article
Year of Publication2017
AuthorsBoyden, LM, Craiglow, BG, Hu, RH, Zhou, J, Browning, J, Eichenfield, L, Lim, YL, Luu, M, Randolph, LM, Ginarte, M, Fachal, L, Rodriguez-Pazos, L, Vega, A, Kramer, D, Yosipovitch, G, Vahidnezhad, H, Youssefian, L, Uitto, J, Lifton, RP, Paller, AS, Milstone, LM, Choate, KA
JournalBr J Dermatol
Volume177
Issue1
Pagination319-322
Date Published2017 07
ISSN1365-2133
KeywordsAdolescent, Adult, Aged, Aged, 80 and over, Child, Child, Preschool, Female, Heterozygote, Homozygote, Humans, Ichthyosis, Infant, Lipase, Male, Middle Aged, Mutation, Missense, Pedigree, Phenotype, Young Adult
DOI10.1111/bjd.15570
Alternate JournalBr. J. Dermatol.
PubMed ID28403545
PubMed Central IDPMC5522355
Grant ListR01 AR068392 / AR / NIAMS NIH HHS / United States
U54 HG006504 / HG / NHGRI NIH HHS / United States