Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain ofKRT1-Reference-Cited by-同舟云学术

Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain ofKRT1

Published:2015-08-21 Issue:11 Volume:24 Page:883-885
ISSN:0906-6705
Container-title:Experimental Dermatology
language:en
Short-container-title:Exp Dermatol

Author:

Nellen Ruud G. L.¹²,Nagtzaam Ivo F.¹²,Hoogeboom A. Jeannette M.³,Bladergroen Reno S.¹,Jonkman Marcel F.⁴,Steijlen Peter M.¹²,van Steensel Maurice A. M.¹²⁵⁶,van Geel Michel¹²⁵

Affiliation:

1. Department of Dermatology; Maastricht University Medical Centre; Maastricht The Netherlands

2. GROW Research School for Oncology and Developmental Biology; Maastricht University Medical Centre; Maastricht The Netherlands

3. Department of Clinical Genetics; Erasmus MC; University Medical Center; Rotterdam The Netherlands

4. Department of Dermatology; University Medical Centre Groningen; University of Groningen; Groningen The Netherlands

5. Department of Clinical Genetics; Maastricht University Medical Centre; Maastricht The Netherlands

6. Institute of Medical Biology; Immunos; Singapore

Funder

GROW

School for Oncology and Developmental Biology

Skin Research Institute of Singapore

Publisher

Wiley

Subject

Dermatology,Molecular Biology,Biochemistry

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/exd.12786/fullpdf

Reference9 articles.

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

2. Keratin gene mutations in disorders of human skin and its appendages

3. Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis

4. A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis

5. An Atypical Form of Bullous Congenital Ichthyosiform Erythroderma is Caused by a Mutation in the L12 Linker Region of Keratin 1

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2. Inheritance of Monogenic Hereditary Skin Disease and Related Canine Breeds;Veterinary Sciences;2022-08-15

3. Bullous diseases caused by KRT1 gene mutations: from epidermolytic hyperkeratosis to a novel variant of epidermolysis bullosa simplex;Advances in Dermatology and Allergology;2021

4. A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis;Clinical Case Reports;2020-09-18

5. Review of Keratin Disorders;Harper's Textbook of Pediatric Dermatology;2019-11-20