ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications-Reference-Cited by-同舟云学术

ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications

Published:2018-09 Issue:3 Volume:91 Page:328-331
ISSN:0923-1811
Container-title:Journal of Dermatological Science
language:en
Short-container-title:Journal of Dermatological Science

Author:

Esperón-Moldes Uxia,Ginarte Manuel,Rodríguez-Pazos Laura,Fachal Laura,Pozo Tomás,Aguilar Jesús Luelmo,del Boz González Javier,Santiago Ana Martín,Vega Ana

Funder

Ramon Areces Foundation

Xunta de Galicia

Publisher

Elsevier BV

Subject

Dermatology,Molecular Biology,Biochemistry

Reference10 articles.

1. New insight into genotype/phenotype correlations in ABCA12 mutations in harlequin ichthyosis;Umemoto;J. Dermatol. Sci.,2011

2. ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts;Akiyama;Hum. Mutat.,2010

3. Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effect;Rodríguez-Pazos;Br. J. Dermatol.,2011

4. Multiple local and recent founder effects of tgm1 in Spanish families;Fachal;PLoS One,2012

5. Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis;Fachal;Br. J. Dermatol.,2014

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient;Pediatric Investigation;2020-03

2. Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis;Acta Dermato Venereologica;2020

3. A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype‐phenotype correlations;Molecular Genetics & Genomic Medicine;2019-03-27

4. Novel ABCA12 compound heterozygous mutations identified in a patient with congenital ichthyosiform erythroderma and aortopulmonary window;European Journal of Dermatology;2019-01