A novel frameshift truncation mutation in the V2 tail domain of KRT1 causes mild ichthyosis hystrix of Curth

A novel frameshift truncation mutation in the V2 tail domain of KRT1 causes mild ichthyosis hystrix of Curth–Macklin

Published:2020-04-10 Issue:6 Volume:45 Page:719-721
ISSN:0307-6938
Container-title:Clinical and Experimental Dermatology
language:en
Short-container-title:Clin Exp Dermatol

Author:

Yang Z.¹^ORCID,Xu Z.¹^ORCID,Zhang N.²,Ma L.¹

Affiliation:

1. Departments of Department of Dermatology Beijing Children's Hospital Capital Medical University (National Center for Children's Health, China) Beijing China

2. Department of Pathology Beijing Children's Hospital Capital Medical University (National Center for Children's Health, China) Beijing China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ced.14193

Reference9 articles.

1. A severe familial phenotype of Ichthyosis Curth-Macklin caused by a novel mutation in theKRT1gene

2. Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin

3. Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis

4. Expanding the Mutation Spectrum of Ichthyosis with Confetti

5. A Novel Mutation and Large Size Polymorphism Affecting the V2 Domain of Keratin 1 in an African-American Family with Severe, Diffuse Palmoplantar Keratoderma of the Ichthyosis Hystrix Curth–Macklin Type

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1. Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases;International Journal of Molecular Sciences;2022-08-24

2. La génétique des kératodermies palmoplantaires isolées;Annales de Dermatologie et de Vénéréologie - FMC;2022-03