Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa-Reference-Cited by-同舟云学术

Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa

Published:2020-04 Issue:2 Volume:29 Page:86-89
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Rehman Atta Ur,Peter Virginie G.,Quinodoz Mathieu,Dawood Muhammad,Rivolta Carlo

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health

Reference9 articles.

1. Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.;Almaani;Acta Derm Venereol,2011

2. Epidemiology of inherited epidermolysis bullosa based on incidence and prevalence estimates from the national epidermolysis bullosa registry.;Fine;JAMA Dermatol,2016

3. Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes.;Knöpfel;Pediatr Dermatol,2018

4. Analysis of protein-coding genetic variation in 60,706 humans.;Lek;Nature,2016

5. Recently identified forms of epidermolysis bullosa.;McGrath;Ann Dermatol,2015

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1. A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family;BMC Ophthalmology;2023-03-23

2. A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family;2022-08-17

3. Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing;Acta Dermato Venereologica;2020