Two missense mutations in CYP4F22 in autosomal recessive congenital ichthyosis

Clin Exp Dermatol. 2017 Jan;42(1):98-100. doi: 10.1111/ced.12988. Epub 2016 Oct 13.

Authors

C Feng^{1

2}, H Wang^{1

2

3

4}, M Lee^{1

2}, J Zhao^{1

2}, Z Lin^{1

2}, Y Yang^{1

2

3}

Affiliations

¹ Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, 100034, PR China.
² Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, PR China.
³ Peking-Tsinghua Center for Life Sciences, Beijing, PR China.
⁴ Academy for Advanced Interdisciplinary Studies, Peking University, Beijing, PR China.

PMID: 27735052
DOI: 10.1111/ced.12988

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Cytochrome P-450 Enzyme System / genetics*
Cytochrome P-450 Enzyme System / metabolism
DNA / genetics*
DNA Mutational Analysis
Genes, Recessive
Humans
Ichthyosiform Erythroderma, Congenital / diagnosis
Ichthyosiform Erythroderma, Congenital / genetics*
Ichthyosiform Erythroderma, Congenital / metabolism
Male
Mutation, Missense*
Pedigree
Skin / pathology*

Substances

DNA
Cytochrome P-450 Enzyme System
CYP4F22 protein, human