Analysis of <scp> <i>COL7A1</i> </scp> pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype–phenotype correlation-Reference-Cited by-同舟云学术

Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype–phenotype correlation

Published:2022-08-18 Issue:11 Volume:188 Page:3153-3161
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Natale Mónica Inés¹^ORCID,Manzur Graciela Beatriz¹²³^ORCID,Lusso Silvina Beatriz¹,Cella Eliana⁴,Giovo María Elsa⁵,Andrada Romina⁶,Goitia Juana⁷,Fernández María Florencia⁸,Della Giovanna Patricia Silvia⁹,Guillamondegui María José¹⁰,Domínguez Mariángeles¹¹,Gutiérrez Olga¹²,Izquierdo Agustín¹³,Hernández Herrera Heliana¹³,Velázquez Perdomo Luz Graciela¹³,Mistchenko Alicia Susana¹,Valinotto Laura Elena¹¹⁴^ORCID

Affiliation:

1. Center for Research in Genodermatoses and Epidermolysis Bullosa (CEDIGEA) University of Buenos Aires Buenos Aires Argentina

2. Rare Diseases of the Skin Unit Dr. R. Gutierrez Children's Hospital Buenos Aires Argentina

3. Dermatology Department Hospital de Clinicas “Jose de San Martín” Buenos Aires Argentina

4. Pediatric Dermatology Prof. Dr. Juan P. Garrahan Children's Hospital Buenos Aires Argentina

5. Pediatric Dermatology La Santisima Trinidad Children's Hospital Córdoba Argentina

6. Dermatology Avelino Castelan Children's Hospital Resistencia Chaco Argentina

7. Pediatric Dermatology Sor Maria Ludovica Children's Hospital La Plata, Buenos Aires Argentina

8. Pediatric Dermatology Fundacion Respirar Argentina

9. Dermatology Prof. A. Posadas Hospital, El Palomar Buenos Aires Argentina

10. Genetics Unit Humberto J. Notti Children's Hospital Guaymallen, Mendoza Argentina

11. Pediatric Dermatology Hospital General de Agudos “Carlos G. Durand” Buenos Aires Argentina

12. Pediatric Dermatology Niños de Acosta Ñu Children's Hospital San Lorenzo Paraguay

13. Bioinformatics, Translational Research Unit Dr. R. Gutiérrez Children's Hospital Buenos Aires Argentina

14. National Scientific and Technical Research Council (CONICET) Argentina

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62957

Reference36 articles.

1. Recurrent molecular abnormalities in type VII collagen in southern Italian patients with recessive dystrophic epidermolysis bullosa

2. Hereditary skin diseases of anchoring fibrils

3. Molecular Heterogeneity of Blistering Disorders: The Paradigm of Epidermolysis Bullosa

4. Biology of anchoring fibrils: lessons from dystrophic epidermolysis bullosa

5. Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A case of adult‐onset localized recessive dystrophic epidermolysis bullosa, harboring the novel COL7A1 mutation p.G2754E and the previously reported mutation p.R1763*;The Journal of Dermatology;2023-10-18

2. Junctional epidermolysis bullosa: genotype-phenotype correlations;Vestnik dermatologii i venerologii;2023-01-27