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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Библиографические подробности
Опубликовано в: :Am J Med Genet A
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: 2015
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Article
Online-ссылка: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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