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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: mehmood s. 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.
Disease causing homozygous variants in the human hairless gene.
Mehmood S, Jan A, Raza SI, Ahmad F, Younus M, Irfanullah, Shahi S, Ayub M, Khan S, Ahmad W. Mehmood S, et al. Int J Dermatol. 2016 Sep;55(9):977-81. doi: 10.1111/ijd.13109. Epub 2015 Dec 18. Int J Dermatol. 2016. PMID: 26680117
Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.
Shah K, Mehmood S, Jan A, Abbe I, Hussain Ali R, Khan A, Chishti MS, Lee K, Ahmad F, Ansar M; University of Washington Center for Mendelian Genomics; Shahzad S, Nickerson DA, Bamshad MJ, Coucke PJ, Santos-Cortez RLP, Spritz RA, Leal SM, Ahmad W. Shah K, et al. Among authors: mehmood s. Int J Dermatol. 2017 Dec;56(12):1406-1413. doi: 10.1111/ijd.13778. Int J Dermatol. 2017. PMID: 29130490 Free PMC article.
395 results