Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease-Reference-Cited by-同舟云学术

Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease

Published:2021-12-28 Issue: Volume: Page:
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Germain Dominique P.¹²^ORCID,Levade Thierry³⁴,Hachulla Eric⁵,Knebelmann Bertrand⁶,Lacombe Didier⁷⁸,Seguin Vanessa Leguy⁹,Nguyen Karine¹⁰,Noël Esther¹¹,Rabès Jean‐Pierre²¹²

Affiliation:

1. French Referral Centre for Fabry Disease, Division of Medical Genetics AP‐HP University Paris Saclay Garches France

2. Division of Medical Genetics University of Versailles‐Saint‐Quentin‐en‐Yvelines Montigny le Bretonneux France

3. INSERM UMR1037 Cancer Research Center of Toulouse (CRCT) and Paul Sabatier University Toulouse France

4. Clinical Biochemistry Laboratory, Reference Center for Inherited Metabolic Diseases, Federative Institute of Biology University Hospital of Toulouse Toulouse France

5. Department of Internal Medicine and Clinical Immunology Claude Huriez Hospital, University of Lille Lille France

6. Nephrology‐Dialysis Department AP‐HP, Necker Enfants Malades Hospital, University of Paris Paris France

7. Department of Medical Genetics University Hospital of Bordeaux Bordeaux France

8. INSERM U1211, University of Bordeaux Bordeaux France

9. Department of Internal Medicine and Clinical Immunology, François Mitterrand Hospital Dijon University Hospital Dijon France

10. Department of Medical Genetics APHM, Timone Children Hospital Marseille France

11. Department of Internal Medicine Strasbourg University Hospital Strasbourg France

12. Department of Biochemistry and Molecular Genetics Ambroise Paré University Hospital, APHP, Paris‐Saclay University Boulogne‐Billancourt France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14102

Reference73 articles.

1. Fabry disease

2. Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy

3. Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease

4. An Atypical Variant of Fabry's Disease with Manifestations Confined to the Myocardium

5. High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*

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