GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer‐Rokitansky‐Kuster‐Hauser syndrome-Reference-Cited by-同舟云学术

GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer‐Rokitansky‐Kuster‐Hauser syndrome

Published:2020-05-25 Issue:2 Volume:98 Page:126-137
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Jacquinet Adeline¹²^ORCID,Boujemla Bouchra²,Fasquelle Corinne¹,Thiry Jerôme²,Josse Claire²³,Lumaka Aimé²,Brischoux‐Boucher Elise⁴^ORCID,Dubourg Christèle⁵⁶,David Véronique⁵⁶,Pasquier Laurent⁷^ORCID,Lehman Anna⁸,Morcel Karine⁵,Guerrier Daniel⁵,Bours Vincent¹²

Affiliation:

1. Center for Human GeneticsCentre Hospitalier Universitaire Liège Belgium

2. Human Genetic Laboratory, GIGA InstituteUniversity of Liège Liège Belgium

3. Medical OncologyCentre Hospitalier Universitaire CHU Liege Liège Belgium

4. Centre de Génétique HumaineUniversité de Franche‐Comté Besançon France

5. Univ. Rennes, CNRS, IGDR (Institut de Génétique et Développement de Rennes) ‐ UMR 6290 Rennes France

6. Department of Molecular Genetics and GenomicsUniversité de Rennes, CHU Rennes Rennes France

7. Department of Medical Genetics, CLAD OuestUniversité de Rennes, CHU Rennes Rennes France

8. Department of Medical GeneticsUniversity of British Columbia, BC Children's Hospital and BC Women's Hospital Vancouver British Columbia Canada

Funder

Fonds De La Recherche Scientifique - FNRS

Service Public de Wallonie

Université de Liège

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13769

Reference30 articles.

1. The prevalence of congenital uterine anomalies in unselected and high-risk populations: a systematic review

2. The ESHRE–ESGE consensus on the classification of female genital tract congenital anomalies

3. Etiologies of uterine malformations

4. Joint utilization of genetic analysis and semi-cloning technology reveals a digenic etiology of Müllerian anomalies

5. Array-comparative genomic hybridization analysis in patients with Müllerian fusion anomalies

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