Further delineation of the phenotypic spectrum associated with hemizygous loss‐of‐function variants in NONO-Reference-Cited by-同舟云学术

Further delineation of the phenotypic spectrum associated with hemizygous loss‐of‐function variants in NONO

Published:2019-12-28 Issue:4 Volume:182 Page:652-658
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Sewani Maham¹,Nugent Kimberly²³⁴,Blackburn Patrick R.⁵^ORCID,Tarnowski Jessica M.⁶,Hernandez‐Garcia Andres⁴,Amiel Jeanne⁷⁸⁹,Whalen Sandra¹⁰,Keren Boris¹¹,Courtin Thomas¹¹,Rosenfeld Jill A.⁴,Yang Yaping⁴,Patterson Marc C.⁶¹²,Pichurin Pavel⁶¹³,McLean Scott D.²³⁴,Scott Daryl A.¹⁴¹⁴^ORCID

Affiliation:

1. Texas Children's Hospital Houston Texas

2. Children's Hospital of San Antonio San Antonio Texas

3. Department of PediatricsBaylor College of Medicine Houston Texas

4. Department of Molecular and Human GeneticsBaylor College of Medicine Houston Texas

5. Department of Laboratory Medicine and PathologyMayo Clinic Rochester Minnesota

6. Department of Clinical GenomicsMayo Clinic Rochester Minnesota

7. 1INSERM UMR 1163, Institut Imagine Paris France

8. Université Paris Descartes‐Sorbonne Paris Cité, Institut Imagine Paris France

9. Service de Génétique, Hôpital Necker‐Enfants Malades Paris France

10. Unité Fonctionnelle de génétique cliniqueHôpital Armand Trousseau, Assistance publique‐Hôpitaux de Paris, Centre de Référence Maladies Rares des anomalies du développement et syndromes malformatifs Paris France

11. Département de génétiqueHôpital Pitié‐Salpêtrière, Assistance Publique‐Hôpitaux de Paris Paris France

12. Department of NeurologyMayo Clinic Rochester Minnesota

13. Center for Individualized MedicineMayo Clinic Rochester Minnesota

14. Department of Molecular Physiology and BiophysicsBaylor College of Medicine Houston Texas

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61466

Reference7 articles.

1. Expanding the genetic and clinical spectrum of the NONO-associated X-linked intellectual disability syndrome