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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Am J Med Genet A
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2015
Pynciau:
Article
Mynediad Ar-lein: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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