Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications-Reference-Cited by-同舟云学术

Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications

Published:2020-05-04 Issue:1 Volume:98 Page:19-31
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Foster Alison¹²^ORCID,Chalot Basile³⁴⁵,Antoniadi Thalia⁶,Schaefer Elise⁷,Keelagher Rebecca⁶,Ryan Gavin⁶,Thomas Quentin⁸,Philippe Christophe⁴⁵,Bruel Ange‐Line⁴⁵^ORCID,Sorlin Arthur³⁴⁵,Thauvin‐Robinet Christel³⁴⁵,Bardou Marc⁹¹⁰,Luu Maxime⁹¹⁰,Quenardelle Veronique¹¹,Wolff Valerie¹¹¹²,Woodley Jessica⁶,Vabres Pierre¹³,Lim Derek²,Igbokwe Rebecca²,Joseph Annie¹⁴,Walker Harriet¹⁵,Jester Andrea¹⁵,Ellenbogen Jonathan¹⁶,Johnson Diana¹⁷,Rooke Bethanie¹⁸,Moss Celia¹¹⁸,Cole Trevor²,Faivre Laurence³⁵

Affiliation:

1. Institute of Cancer and Genomic Sciences University of Birmingham Birmingham UK

2. West Midlands Regional Genetics Service and Birmingham Health Partners Birmingham Women's and Children's Hospitals NHS Foundation Trust Birmingham UK

3. Centre de Génétique et Centre de référence « Anomalies du Développement et Syndromes Malformatifs », Hôpital d’Enfants Centre Hospitalier Universitaire de Dijon Dijon France

4. Laboratoire de Génétique chromosomique et moléculaire, UF Innovation en diagnostic génomique des maladies rares Centre Hospitalier Universitaire de Dijon Dijon France

5. UMR‐Inserm 1231 GAD team, Génétique des Anomalies du développement Université de Bourgogne Franche‐Comté Dijon France

6. West Midlands Regional Genetics Laboratory Birmingham Women's and Children's NHS Foundation Trust Birmingham UK

7. Service de génétique médicale ‐ Hôpitaux Universitaires de Strasbourg Institut de Génétique Médicale d'Alsace Strasbourg France

8. Service de Neurologie Centre Hospitalier Universitaire de Dijon Dijon France

9. Service de Pharmacologie et Centre d'Investigation Clinique Centre Hospitalier Universitaire de Dijon Dijon France

10. INSERM CIC 1432 Université de Bourgogne Franche‐Comté Dijon France

11. Stroke Unit University Hospital Strasbourg France

12. Federation of Translational Medicine of Strasbourg University of Strasbourg Strasbourg France

13. Service de Dermatologie CHU de Dijon, Université de Bourgogne France

14. Ophthalmology Department Royal Stoke University Hospital Stoke‐on‐Trent UK

15. Hand and Upper Limb Service, Plastic and Reconstructive Surgery Birmingham Women's and Children's NHS Foundation Trust Birmingham UK

16. Paediatric Neurosurgery Alder Hey Children's NHS Foundation Trust Liverpool UK

17. Sheffield Clinical Genetics Service Sheffield Children's NHS Foundation Trust Sheffield UK

18. Department of Dermatology Birmingham Children's Hospital, Birmingham Women's and Children's NHS Foundation Trust Birmingham UK

Funder

National Institute for Health Research

European Commission

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13752

Reference26 articles.

1. Role of platelet-derived growth factors in physiology and medicine

2. A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis

3. Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis

4. Heterozygous PDGFRB Mutation in a Three-generation Family with Autosomal Dominant Infantile Myofibromatosis

5. The spectrum of infantile myofibromatosis includes both non-penetrance and adult recurrence

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