Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes-Reference-Cited by-同舟云学术

Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes

Published:2017-12-22 Issue:2 Volume:35 Page:e94-e98
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatr Dermatol

Author:

Knöpfel Nicole¹^ORCID,Noguera-Morel Lucero¹,Hernández-Martin Angela¹,García-Martin Adela²,García Marta²,Mencía Ángeles²,Pedrero Rocío Maseda³,de Lucas Raúl³,Escámez Maria José²,Torrelo Antonio¹^ORCID

Affiliation:

1. Department of Dermatology; Hospital Infantil Universitario Niño Jesús; Madrid Spain

2. Department of Bioengineering; Universidad Carlos III de Madrid (UC3M); CIEMAT-Centro de Investigación Biomédica en Red de Enfermedades Raras (U714-CIBERER); Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz (IISFJD); Madrid Spain

3. Department of Dermatology; Hospital Universitario La Paz; Madrid Spain

Funder

Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas, Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz

DEBRA-Spain

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/pde.13367/fullpdf

Reference16 articles.

1. The classification of inherited epidermolysis bullosa (EB): report of the third international consensus meeting on diagnosis and classification of EB;Fine;J Am Acad Dermatol,2008

2. Epidermolysis bullosa pruriginosa: a systematic review exploring genotype-phenotype correlation;Kim;Am J Clin Dermatol,2015

3. An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred;Yang;Pediatr Dermatol,2012

4. Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features;McGrath;Br J Dermatol,1994

5. The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation;Escámez;Br J Dermatol,2010

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1. A case of dystrophic epidermolysis bullosa with a rare COL7A1 variant;Anais Brasileiros de Dermatologia;2024-05

2. Clinical and allelic heterogeneity in dystrophic epidermolysis bullosa- lessons from an Indian cohort;PLOS ONE;2023-08-09

3. Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa;Clinical Dysmorphology;2020-04