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

We present clinical, radiological, biochemical, and genetic findings on six patients from two consanguineous families that show EDS-like features and radiological findings of a mild skeletal dysplasia. The EDS-like findings comprise hyperelastic, thin, and bruisable skin, hypermobility of the small...

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Détails bibliographiques
Auteurs principaux: Giunta, Cecilia, Elçioglu, Nursel H., Albrecht, Beate, Eich, Georg, Chambaz, Céline, Janecke, Andreas R., Yeowell, Heather, Weis, MaryAnn, Eyre, David R., Kraenzlin, Marius, Steinmann, Beat
Format: Artigo
Langue:Inglês
Publié: American Society of Human Genetics 2008
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2427271/
https://ncbi.nlm.nih.gov/pubmed/18513683
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.05.001
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