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Article

The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.

American journal of medical genetics. Part A - 1 Jan 2016

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

Abstract excerpt

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 far with bi-allelic mutations identified in CHST14 and DSE, respectively, encoding two enzymes necessary for...

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Source

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Identifiers

PMID: 26373698
DOI: 10.1002/ajmg.a.37383
PMCID: PMC5115638

Genes

CHST14
DSE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.PMID 26373698Read ↗

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