Genotype FBN1 /phenotype relationship in a cohort of patients with Marfan syndrome-Reference-Cited by-同舟云学术

Genotype FBN1 /phenotype relationship in a cohort of patients with Marfan syndrome

Published:2020-11-23 Issue:2 Volume:99 Page:269-280
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Hernándiz Amparo¹^ORCID,Zúñiga Angel²,Valera Francisco³,Domingo Diana⁴,Ontoria‐Oviedo Imelda¹^ORCID,Marí Jose F.⁵,Román Jose A.⁶,Calvo Inmaculada⁷,Insa Beatriz⁸,Gómez Rosa⁹,Cervera José V.²,Miralles Manuel¹⁰,Montero Jose A.¹,Martínez‐Dolz Luis⁴¹¹,Sepúlveda Pilar¹¹¹

Affiliation:

1. Unidad de Regeneración y Trasplante cardíaco Instituto de Investigación Sanitaria La Fe Valencia España Spain

2. Unidad de Genética, Hospital Universitario La Fe Valencia España Spain

3. Servicio de Cirugía Cardiaca Hospital Universitario La Fe Valencia España Spain

4. Servicio de Cardiología Hospital Universitario La Fe Valencia España Spain

5. Servicio de Oftalmología Hospital Universitario La Fe Valencia España Spain

6. Servicio de Reumatología Hospital Universitario La Fe Valencia España Spain

7. Servicio de Reumatología Pediátrica Hospital Universitario La Fe Valencia España Spain

8. Servicio de Cardiología Pediátrica Hospital Universitario La Fe Valencia España Spain

9. Servicio de Ginecología, Unidad de Reproducción, Servicio de Ginecología, Hospital Universitario La Fe Valencia España Spain

10. Servicio de Angiología y Cirugía Vascular Hospital Universitario La Fe Valencia Spain

11. Instituto de Salud Carlos III, CIBERCV CB16/11/00261 Madrid Spain

Funder

Fundación para la Investigación del Hospital Universitari La Fe

Instituto de Salud Carlos III

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13879

Reference36 articles.

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2. DietzH.Marfan Syndrome ‐ GeneReviews® ‐ NCBI Bookshelf. (University of Washington S 1993–2020 ed);2017.https://pubmed.ncbi.nlm.nih.gov/20301510/

3. Medical Management of Marfan Syndrome

4. FBN1: the disease‐causing gene for Marfan syndrome and other genetic disorders;Sakai LY;Gene,2016

5. Perspectives on the revised Ghent criteria for the diagnosis of marfan syndrome;Kodolitsch Y;Appl Clin Genet,2015

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