The Phenotype of the Musculocontractural Type of Ehlers-Danlos Syndrome due to CHST14 Mutations

The musculocontractural type of Ehlers-Danlos syndrome (MC-EDS) has been recently recognized as a clinical entity. MC-EDS represents a differential diagnosis within the congenital neuromuscular and connective tissue disorders spectrum. Thirty-one and three patients have been reported with MC-EDS so...

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Détails bibliographiques
Publié dans:Am J Med Genet A
Auteurs principaux: Janecke, Andreas R., Li, Ben, Boehm, Manfred, Krabichler, Birgit, Rohrbach, Marianne, Müller, Thomas, Fuchs, Irene, Golas, Gretchen, Katagiri, Yasuhiro, Ziegler, Shira G., Gahl, William A., Wilnai, Yael, Zoppi, Nicoletta, Geller, Herbert M., Giunta, Cecilia, Slavotinek, Anne, Steinmann, Beat
Format: Artigo
Langue:Inglês
Publié: 2015
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5115638/
https://ncbi.nlm.nih.gov/pubmed/26373698
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37383
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