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A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.
Ahmad F, Ansar M, Mehmood S, Izoduwa A, Lee K, Nasir A, Abrar M, Mehmood S, Ullah A, Aziz A; University of Washington Center for Mendelian Genomics; Smith JD, Shendure J, Bamshad MJ, Nicekrson DA, Santos-Cortez RL, Leal SM, Ahmad W. Ahmad F, et al. Among authors: nicekrson da. J Eur Acad Dermatol Venereol. 2016 Dec;30(12):e210-e213. doi: 10.1111/jdv.13540. Epub 2015 Dec 21. J Eur Acad Dermatol Venereol. 2016. PMID: 26691440 Free PMC article. No abstract available.