A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.

TitleA novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.
Publication TypeJournal Article
Year of Publication2016
AuthorsAhmad, F, Ansar, M, Mehmood, S, Izoduwa, A, Lee, K, Nasir, A, Abrar, M, Mehmood, S, Ullah, A, Aziz, A, Smith, JD, Shendure, J, Bamshad, MJ, Nicekrson, DA, Santos-Cortez, RLP, Leal, SM, Ahmad, W
Corporate AuthorsUniversity of Washington Center for Mendelian Genomics
JournalJ Eur Acad Dermatol Venereol
Volume30
Issue12
Paginatione210-e213
Date Published2016 Dec
ISSN1468-3083
KeywordsAmino Acid Sequence, Consanguinity, Female, Genes, Recessive, Humans, Ichthyosiform Erythroderma, Congenital, Lipase, Male, Mutation, Missense, Pakistan, Pedigree, Sequence Homology, Amino Acid
DOI10.1111/jdv.13540
Alternate JournalJ Eur Acad Dermatol Venereol
PubMed ID26691440
PubMed Central IDPMC5093081
Grant ListUM1 HG006493 / HG / NHGRI NIH HHS / United States