Whole‐exome sequencing identified a novel pathogenic mutation of the <i>CYP4F22</i> gene in a Chinese patient with autosomal recessive congenital ichthyosis and <i>in vitro</i> study of the mutant CYP4F22 protein-Reference-Cited by-同舟云学术

Whole‐exome sequencing identified a novel pathogenic mutation of the CYP4F22 gene in a Chinese patient with autosomal recessive congenital ichthyosis and in vitro study of the mutant CYP4F22 protein

Published:2022-01-11 Issue:5 Volume:49 Page:550-555
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:The Journal of Dermatology

Author:

Zhao Lina¹²,Wang Caixia³,Zhang Yaning¹²,Li Jinyun¹,Liu Huize¹,Feng Dairong¹²^ORCID

Affiliation:

1. Department of Medical Genetics and Prenatal Diagnosis Affiliated Hospital of Weifang Medical University Weifang China

2. School of Life Science and Technology Weifang Medical University Weifang China

3. Department of Pediatrics Qingdao Municipal Hospital Group Qingdao China

Funder

Natural Science Foundation of Shandong Province

National Natural Science Foundation of China

Project of Shandong Province Higher Educational Science and Technology Program

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/1346-8138.16300

Reference14 articles.

1. Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009

2. Genotypic and Clinical Spectrum of Self-Improving Collodion Ichthyosis: ALOX12B, ALOXE3, and TGM1 Mutations in Scandinavian Patients

3. Prevalence of autosomal recessive congenital ichthyosis: A population-based study using the capture-recapture method in Spain

4. Incidence of Moderate to Severe Ichthyosis in the United States

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1. A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis;Congenital Anomalies;2023-05

2. Ceramide Analysis in Combination With Genetic Testing May Provide a Precise Diagnosis for Self-Healing Collodion Babies;Journal of Lipid Research;2022-12