Identification of two rare and novel large deletions inITGB4gene causing epidermolysis bullosa with pyloric atresia-Reference-Cited by-同舟云学术

Identification of two rare and novel large deletions inITGB4gene causing epidermolysis bullosa with pyloric atresia

Published:2016-04 Issue:4 Volume:25 Page:269-274
ISSN:0906-6705
Container-title:Experimental Dermatology
language:en
Short-container-title:Exp Dermatol

Author:

Mencía Ángeles¹²³,García Marta¹²³⁴,García Eva³⁵,Llames Sara³⁴⁵,Charlesworth Alexandra⁶,de Lucas Raúl⁷,Vicente Asunción⁸,Trujillo-Tiebas María José³⁴⁹,Coto Pablo¹⁰,Costa Marta¹⁰,Vera Ángel¹¹,López-Pestaña Arantxa¹²,Murillas Rodolfo²³⁴,Meneguzzi Guerrino¹³,Jorcano José Luis¹²,Conti Claudio J¹³,Escámez Toledano María José¹²³⁴,del Río Nechaevsky Marcela¹²³⁴

Affiliation:

1. Department of Bioengineering; Tissue Engineering and Regenerative Medicine Group (TERMeG); Universidad Carlos III de Madrid; Madrid Spain

2. Regenerative Medicine Unit; Centro de Investigaciones Energética Medioambientales y Tecnológicas (CIEMAT); Madrid Spain

3. Instituto de Investigación Sanitaria de la Fundación Jimenez Diaz (IIS-FJD); Madrid Spain

4. Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER); ISCIII; Madrid Spain

5. Laboratorio de Ingeniería de Tejidos; Centro Comunitario de Sangre y Tejidos de Asturias (CCST) Asturias; Oviedo Spain

6. French Reference Centre for Inherited Epidermolysis Bullosa; L'Archet Hospital; BP 3079 06202 Nice Cedex3 France

7. Sección de Dermatología; Hospital Universitario La Paz; Madrid Spain

8. Servicio de Dermatología; Hospital Sant Joan de Déu; University of Barcelona; Barcelona Spain

9. Instituto de Investigación Sanitaria de la Fundación Jimenez Diaz (IIS-FJD); Hospital Universitario Jiménez Díaz; Madrid Spain

10. Servicio de Dermatología y Neonatología; Hospital Universitario Central de Asturias; Oviedo Spain

11. Servicio de Dermatología; Complejo Hospitalario Carlos Haya; Málaga Spain

12. Servicio de Dermatología; Hospital Donostia; Gipuzkoa Spain

13. INSERM U1081; CNRS UMR7284; University of Nice; Sophia Antipolis; Faculty of Medicine; 28 Avenue Valombrose F-06107 Nice France

Funder

Spanish Ministerio de Economía y Competitividad

Biomedical Network Research Centre on Rare Diseases (CIBERER)

Comunidad de Madrid

FUNDACION RAMON ARECES

GENEGRAFT

Spanish Ministry of Economy and Competitiveness (Programme Juan de la Cierva)

Publisher

Wiley

Subject

Dermatology,Molecular Biology,Biochemistry

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/exd.12938/fullpdf

Reference41 articles.

1. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

2. Epidermolysis Bullosa with Pyloric Atresia

3. Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa

4. Hemidesmosomal variants of epidermolysis bullosa

5. alpha6beta4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia

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1. Case report: A case of epidermolysis bullosa complicated with pyloric atresia and a literature review;Frontiers in Pediatrics;2023-03-23

2. Inherited epidermolysis bullosa: update on the clinical and genetic aspects;Anais Brasileiros de Dermatologia;2020-09

3. Über die Problematik der klinischen Entscheidungsfindung aufgrund von Fallbeschreibungen – ethische Implikationen am Beispiel eines Falls von Carmi Syndrom;Ethik in der Medizin;2020-06-30

4. Genotype‐phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review;Clinical Genetics;2020-06-29

5. Epidermolysis Bullosa and Kindler Syndrome;Harper's Textbook of Pediatric Dermatology;2019-11-20