Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype-Reference-Cited by-同舟云学术

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype

Published:2017-05-12 Issue:7 Volume:173 Page:1739-1746
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Wade Emma M.¹,Jenkins Zandra A.¹,Daniel Philip B.¹,Morgan Tim¹,Addor Marie C.²,Adés Lesley C.³,Bertola Debora⁴,Bohring Axel⁵,Carter Erin⁶,Cho Tae-Joon⁷,de Geus Christa M.⁸,Duba Hans-Christoph⁹,Fletcher Elaine¹⁰,Hadzsiev Kinga¹¹,Hennekam Raoul C. M.¹²,Kim Chong A.⁴,Krakow Deborah¹³^ORCID,Morava Eva¹⁴,Neuhann Teresa¹⁵,Sillence David¹⁶,Superti-Furga Andrea¹⁷,Veenstra-Knol Hermine E.¹⁸,Wieczorek Dagmar¹⁸,Wilson Louise C.¹⁹,Markie David M.²⁰,Robertson Stephen P.¹^ORCID

Affiliation:

1. Department of Women's and Children's Health, Dunedin School of Medicine; University of Otago; Dunedin New Zealand

2. Service de Génétique Médicale Maternité; CHUV Lausanne; Switzerland

3. Discipline of Pediatrics and Child Health, University of Sydney and Department of Clinical Genetics; The Children's Hospital,; Westmead Sydney Australia

4. Genetics Unity, Instituto da Criança; Hospital das Clinicas da Faculdade de Medicina; São Paulo Brazil

5. Institut fur Humangenetik; Universitatsklinikum Munster; Germany

6. Kathryn O. and Alan C. Greenberg Center for Skeletal Dysplasias; Hospital for Special Surgery; New York New York

7. Division of Pediatric Orthopedics; Seoul National University Children's Hospital; Seoul Republic of Korea

8. Department of Genetics, University of Groningen; University Medical Centre Groningen; Groningen The Netherlands

9. Zentrum Medizinische Genetik Linz; Kepler Universitätsklinikum Medical Campus IV; Krankenhausstrasse Linz Austria

10. SE Scotland Clinical Genetics Service; Western General Hospital; Edinburgh United Kingdom

11. Department of Medical Genetics; University of Pécs; Pécs Hungary

12. Department of Pediatrics, Academic Medical Center; University of Amsterdam; Amsterdam The Netherlands

13. David Geffen School of Medicine; UCLA; Los Angeles California

14. Department of Pediatrics; University Hospital Leuven; Leuven Belgium

15. MGZ-Medical Genetics Center; Munich Germany

16. Department of Genetic Medicine, Westmead Hospital, and Discipline of Genetic Medicine; Sydney Medical School; Sydney Australia

17. Department of Pediatrics; CHUV, University of Lausanne; Switzerland

18. Institut für Humangenetik, Universitätsklinikum Düsseldorf; Heinrich-Heine-Universität Düsseldorf; Düsseldorf Germany

19. Clinical Genetics Unit; Great Ormond Street Hospital for Children NHS Foundation Trust; London United Kingdom

20. Department of Pathology, Dunedin School of Medicine; University of Otago; Dunedin New Zealand

Funder

Royal Society of New Zealand

Cure Kids

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference18 articles.

1. Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R;Atwal;American Journal of Medical Genetics Part A,2015

2. Frontometaphyseal dysplasia and keloid formation without FLNA mutations;Basart;American Journal of Medical Genetics Part A,2015

3. TAK1-dependent signaling requires functional interaction with TAB2/TAB3;Besse;The Journal of Biological Chemistry,2007

4. Fronto-metaphyseal dysplasia. Further delineation of the clinical syndrome;Fitzsimmons;Clinical Genetics,1982

5. The p38 MAPK pathway is essential for skeletogenesis and bone homeostasis in mice;Greenblatt;Journal of Clinical Investigation,2013

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