新型复合杂合子FATP4突变导致西班牙姐妹患鱼鳞病早熟综合征。 - Suppr

Novel compound heterozygous FATP4 mutations caused ichthyosis prematurity syndrome in Spanish sisters.

作者信息

Esperón-Moldes Uxía Saraiva, Ginarte Manuel, Santamariña Marta, Rodríguez-Lage Belinda, Rodríguez-Pazos Laura, Vega Ana

机构信息

Fundación Pública Galega de Medicina Xenómica-SERGAS, CIBERER, IDIS, Grupo de Medicina Xenómica-Universidade de Santiago de Compostela, Santiago de Compostela, Spain.

Dermatology Service, Complexo Hospitalario Universitario de Santiago, Santiago de Compostela, Spain.

出版信息

Acta Paediatr. 2019 Apr;108(4):763-765. doi: 10.1111/apa.14694. Epub 2019 Feb 1.

DOI:10.1111/apa.14694

PMID:30536735

Abstract

摘要

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Novel compound heterozygous FATP4 mutations caused ichthyosis prematurity syndrome in Spanish sisters.新型复合杂合子FATP4突变导致西班牙姐妹患鱼鳞病早熟综合征。

Acta Paediatr. 2019 Apr;108(4):763-765. doi: 10.1111/apa.14694. Epub 2019 Feb 1.

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Novel compound heterozygous FATP4 mutations caused ichthyosis prematurity syndrome in Spanish sisters.

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