Frontometaphyseal dysplasia and keloid formation withoutFLNAmutations-Reference-Cited by-同舟云学术

Frontometaphyseal dysplasia and keloid formation withoutFLNAmutations

Published:2015-04-21 Issue:6 Volume:167 Page:1215-1222
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Basart Hanneke¹²,van de Kar Annekatrien²,Adès Lesley³,Cho Tae-Joon⁴,Carter Erin⁵,Maas Saskia M.¹,Wilson Louise C.⁶,van der Horst Chantal M. A. M.²,Wade Emma M.⁷,Robertson Stephen P.⁷,Hennekam Raoul C.¹⁸

Affiliation:

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

2. Department of Plastic and Reconstructive Surgery; Academic Medical Center, University of Amsterdam; Amsterdam The Netherlands

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

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

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

6. Clinical Genetics Unit; Great Ormond Street Hospital for Children NHS Foundation Trust; London UK

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

8. Department of Clinical Genetics, Academic Medical Center; University of Amsterdam; Amsterdam The Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37044/fullpdf

Reference11 articles.

1. Ocular pterygium-digital keloid dysplasia;Abarca;Am J Med Genet Part A,2014

2. What to call a syndrome;Hennekam;Am J Med Genet Part A,2007

3. Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: Clinical, pathological, and molecular findings;Mariño-Enríquez;Am J Med Genet Part A,2007

4. Filamin A: Phenotypic diversity;Robertson;Curr Opin Genet Dev,2005

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