Compound Heterozygosity of Dominant and Recessive COL7A Alleles in a Severely Affected Patient with a Family History of Dystrophic Epidermolysis Bullosa: Clinical Findings, Genetic Testing, and Treatment Implications-Reference-Cited by-同舟云学术

Compound Heterozygosity of Dominant and Recessive COL7A Alleles in a Severely Affected Patient with a Family History of Dystrophic Epidermolysis Bullosa: Clinical Findings, Genetic Testing, and Treatment Implications

Published:2017-03 Issue:2 Volume:34 Page:166-171
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatr Dermatol

Author:

Watson Kendra D.¹,Schoch Jennifer J.¹,Beek Geoffrey J.²,Hand Jennifer L.¹²³

Affiliation:

1. Department of Dermatology; Mayo Clinic; Rochester Minnesota

2. Department of Medical Genetics; Mayo Clinic; Rochester Minnesota

3. Department of Pediatric and Adolescent Medicine; Mayo Clinic; Rochester Minnesota

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/pde.13083/fullpdf

Reference16 articles.

1. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification;Fine;J Am Acad Dermatol,2014

2. Studies on the pathogenesis of epidermolysis bullosa;Pearson;J Invest Dermatol,1962

3. The clinical spectrum of dystrophic epidermolysis bullosa;Horn;Br J Dermatol,2002

4. Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene;Winberg;Hum Mol Genet,1997

5. Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations;Hammami-Hauasli;J Invest Dermatol,1998

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3. Intrafamilial Diversity of Clinical Severity in Dominant Dystrophic Epidermolysis Bullosa: Case Series of Three Generations;The Open Dermatology Journal;2019-02-28