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Keywords: Musculocontractural Ehlers-Danlos syndrome
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Journal Articles
In collection:
Neuromuscular Disease
Yuko Nitahara-Kasahara, Shuji Mizumoto, Yukiko U. Inoue, Shota Saka, Guillermo Posadas-Herrera, Aki Nakamura-Takahashi, Yuki Takahashi, Ayana Hashimoto, Kohei Konishi, Shinji Miyata, Chiaki Masuda, Emi Matsumoto, Yasunobu Maruoka, Takahiro Yoshizawa, Toshiki Tanase, Takayoshi Inoue, Shuhei Yamada, Yoshihiro Nomura, Shin'ichi Takeda, Atsushi Watanabe, Tomoki Kosho, Takashi Okada
Journal:
Disease Models & Mechanisms
Dis Model Mech (2021) 14 (12): dmm048963.
Published: 23 December 2021
...; Yoshihiro Nomura; Shin'ichi Takeda; Atsushi Watanabe; Tomoki Kosho; Takashi Okada ABSTRACT Musculocontractural Ehlers-Danlos syndrome (mcEDS) is caused by generalized depletion of dermatan sulfate (DS) due to biallelic pathogenic variants in CHST14 encoding dermatan 4- O -sulfotransferase 1 (D4ST1) (mcEDS...
Includes: Supplementary data
Journal Articles
Nadège Gouignard, Marco Maccarana, Ina Strate, Kristoffer von Stedingk, Anders Malmström, Edgar M. Pera
Journal:
Disease Models & Mechanisms
Dis Model Mech (2016) 9 (6): 607–620.
Published: 1 June 2016
... stem and progenitor cell population, which is designated the neural crest (NC). Musculocontractural Ehlers–Danlos syndrome (MCEDS) is a heritable connective tissue disorder with distinct craniofacial features; this syndrome comprises multiple congenital malformations that are caused by dysfunction...
Includes: Supplementary data