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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Vydáno v:Am J Med Genet A
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: 2015
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Article
On-line přístup: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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