Literature DB >> 29887490

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

Uxia Esperón-Moldes1, Manuel Ginarte2, Laura Rodríguez-Pazos3, Laura Fachal4, Tomás Pozo5, Jesús Luelmo Aguilar6, Javier Del Boz González7, Ana Martín Santiago8, Ana Vega9.   

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Year:  2018        PMID： 29887490     DOI： 10.1016/j.jdermsci.2018.05.012

Source DB:  PubMed          Journal:  J Dermatol Sci        ISSN： 0923-1811            Impact factor:   4.563


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  4 in total

1.  Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient.

Authors:  Zhou Yang; Zhan Qi; Zhe Xu; Wei Li; Lin Ma
Journal:  Pediatr Investig       Date:  2020-03-17

Review 2.  Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis.

Authors:  Jouni Uitto; Leila Youssefian; Amir Hossein Saeidian; Hassan Vahidnezhad
Journal:  Acta Derm Venereol       Date:  2020-03-25       Impact factor: 3.875

3.  A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.

Authors:  Martha Montalván-Suárez; Uxia Saraiva Esperón-Moldes; Laura Rodríguez-Pazos; Andrés Ordóñez-Ugalde; Fernanda Moscoso; Nora Ugalde-Noritz; Luis Santomé; Laura Fachal; Daniel Tettamanti-Miranda; Juan Carlos Ruiz; Manuel Ginarte; Ana Vega
Journal:  Mol Genet Genomic Med       Date:  2019-03-27       Impact factor: 2.183

4.  Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation.

Authors:  Uxia Esperón-Moldes; Manuel Ginarte-Val; Laura Rodríguez-Pazos; Laura Fachal; Ana Martín-Santiago; Asunción Vicente; David Jiménez-Gallo; Encarna Guillén-Navarro; Loreto Martorell Sampol; María Antonia González-Enseñat; Ana Vega
Journal:  PLoS One       Date:  2020-02-18       Impact factor: 3.240
  4 in total

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