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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Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.基因靶向新一代测序在常染色体隐性先天性鱼鳞病表型谱患者中鉴定出PNPLA1突变：近亲结婚的影响
J Invest Dermatol. 2017 Mar;137(3):678-685. doi: 10.1016/j.jid.2016.11.012. Epub 2016 Nov 21.
2
Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients.斯堪的纳维亚地区常染色体隐性先天性鱼鳞病谱系：132例患者的临床特征及新发现和复发性突变
Acta Derm Venereol. 2016 Nov 2;96(7):932-937. doi: 10.2340/00015555-2418.
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