Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.
作者信息
Boyden L M, Craiglow B G, Hu R H, Zhou J, Browning J, Eichenfield L, Lim Y L, Luu M, Randolph L M, Ginarte M, Fachal L, Rodriguez-Pazos L, Vega A, Kramer D, Yosipovitch G, Vahidnezhad H, Youssefian L, Uitto J, Lifton R P, Paller A S, Milstone L M, Choate K A
机构信息
Department of Genetics, Yale University School of Medicine, PO Box 208059, New Haven, CT, 06520, U.S.A.
Department of Dermatology, Yale University School of Medicine, PO Box 208059, New Haven, CT, 06520, U.S.A.
出版信息
Br J Dermatol. 2017 Jul;177(1):319-322. doi: 10.1111/bjd.15570. Epub 2017 Jun 7.
Abstract
摘要
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本文引用的文献
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2
Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients.
Acta Derm Venereol. 2016 Nov 2;96(7):932-937. doi: 10.2340/00015555-2418.
3
Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family.
J Dermatol Sci. 2016 Apr;82(1):46-8. doi: 10.1016/j.jdermsci.2015.12.012. Epub 2015 Dec 31.
4
A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.
J Eur Acad Dermatol Venereol. 2016 Dec;30(12):e210-e213. doi: 10.1111/jdv.13540. Epub 2015 Dec 21.
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