Literature DB >> 27735052

Two missense mutations in CYP4F22 in autosomal recessive congenital ichthyosis.

C Feng1,2, H Wang1,2,3,4, M Lee1,2, J Zhao1,2, Z Lin1,2, Y Yang1,2,3.   

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Year:  2016        PMID： 27735052     DOI： 10.1111/ced.12988

Source DB:  PubMed          Journal:  Clin Exp Dermatol        ISSN： 0307-6938            Impact factor:   3.470


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  3 in total

1.  Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype-phenotype correlation.

Authors:  Mariem Ennouri; Andreas D Zimmer; Emna Bahloul; Rim Chaabouni; Slaheddine Marrakchi; Hamida Turki; Faiza Fakhfakh; Noura Bougacha-Elleuch; Judith Fischer
Journal:  BMC Med Genomics       Date:  2022-01-05       Impact factor: 3.063

2.  Novel compound heterozygous mutations in the CYP4F22 gene in a patient with autosomal recessive congenital ichthyosis.

Authors:  Haiyan Tang; Xiaoliu Shi; Guiying Zhang
Journal:  Clin Case Rep       Date:  2021-12-05

3.  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
  3 in total

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