Work

Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13

Year: 2008

Type: article

Study design: Case Report

Source: The American Journal of Human Genetics

DOI: 10.1016/j.ajhg.2008.05.001

Authors: Cecilia Giunta, Nursel H. Elçioglu, Beate Albrecht, Georg Eich, Céline Chambaz, Andreas R. Janecke, Heather Yeowell, MaryAnn Weis, David R. Eyre, Marius Kraenzlin, Beat Steinmann

Institutions: University Children's Hospital Zurich, Marmara University, Essen University Hospital, University of Duisburg-Essen, Kantonsspital Aarau, Innsbruck Medical University, Duke Medical Center, University of Washington, University Hospital of Basel

Language: English

Topic: Connective tissue disorders research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung, National Institutes of Health, National Institute of Arthritis and Musculoskeletal and Skin Diseases

Awards: G3120283113, G3996451369, Collagen Diversity and Pathobiology in Skeletal Tissues, COLLAGENS OF CARTILAGE AND THE INTERVERTEBRAL DISC, Collagen Cross-linking in Skeletal Aging and Disease, G6604657554, COLLAGEN CROSS-LINKING IN SKELETAL AGING AND DISEASE, G9000051090, G9000241741, Molecular Biology and Pathology of Connective Tissues

OpenAlex ID: W2007145608

FWCI: 5.782

Cites: 45

Cited by: 220

Related to: 10