Skin fragility, woolly hair syndrome with a desmoplakin mutation - a case from India-Reference-Cited by-同舟云学术

Skin fragility, woolly hair syndrome with a desmoplakin mutation - a case from India

Published:2018-06-25 Issue:9 Volume:57 Page:e73-e75
ISSN:0011-9059
Container-title:International Journal of Dermatology
language:en
Short-container-title:Int J Dermatol

Author:

Peter Dincy C. V.¹,Thomas Meera²,Wilson Neil J.³,Smith Frances J. D.⁴

Affiliation:

1. Department of Dermatology, Venereology and Leprosy; Christian Medical College; Vellore Tamil Nadu India

2. Department of Pathology; Christian Medical College; Vellore Tamil Nadu India

3. Centre for Dermatology and Genetic Medicine; Division of Biological Chemistry and Drug Discovery; School of Life Sciences; University of Dundee; Dundee UK

4. Pachyonychia Congenita Project; Holladay UT USA

Funder

Pachyonychia Congenita Project

Wellcome Trust

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ijd.14096/fullpdf

Reference8 articles.

1. Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes;Al-Owain;Clin Genet,2011

2. Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities;Mahoney;J Invest Dermatol,2010

3. Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skinfragility ⁄ woolly hair syndrome;Whittock;J Invest Dermatol,2002

4. Identification and characterization of DSPIa, a novel isoform of human desmoplakin;Cabral;Cell Tissue Res,2010

5. Compound heterozygous mutations in desmoplakin cause skin fragility and woolly hair;Smith;Br J Dermatol,2012

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1. A Novel Variant in the Desmoplakin Gene in One Case of the Rare Carvajal Syndrome with Dilated Cardiomyopathy: A Case Report and Literature Review;Clinical, Cosmetic and Investigational Dermatology;2023-09

2. Two siblings with the skin fragility woolly hair syndrome;Journal of Cosmetic Dermatology;2022-08-09