The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due toCHST14mutations-Reference-Cited by-同舟云学术

The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due toCHST14mutations

Published:2015-09-16 Issue:1 Volume:170 Page:103-115
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Janecke Andreas R.¹²,Li Ben³,Boehm Manfred⁴,Krabichler Birgit²,Rohrbach Marianne⁵,Müller Thomas¹,Fuchs Irene¹,Golas Gretchen⁶,Katagiri Yasuhiro⁷,Ziegler Shira G.⁶,Gahl William A.⁶,Wilnai Yael⁸,Zoppi Nicoletta⁹,Geller Herbert M.⁷,Giunta Cecilia⁵,Slavotinek Anne³,Steinmann Beat⁵

Affiliation:

1. Department of Pediatrics I; Innsbruck Medical University; Innsbruck Austria

2. Division of Human Genetics; Innsbruck Medical University; Innsbruck Austria

3. Department of Pediatrics, Division of Genetics; University of California; San Francisco California

4. Translational Medicine Branch NHLBI-NIH; Bethesda Maryland

5. Division of Metabolism, Connective Tissue Unit and Children's Research Center; University Children's Hospital; Zurich Switzerland

6. NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, and Office of the Clinical Director, National Human Genome Research Institute; National Institutes of Health; Bethesda Maryland

7. Developmental Neurobiology Section, National Heart, Lung, and Blood Institute; National Institutes of Health; Bethesda Maryland

8. Division of Medical Genetics, Department of Pediatrics; Stanford University Medical Center; Stanford California

9. Division of Biology and Genetics, Department of Molecular and Translational Medicine, Medical Faculty; University of Brescia; Brescia Italy

Funder

Danish National Science Foundation

NIH Common Fund

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference36 articles.