Clinical and pathophysiological delineation of musculocontractural Ehlers—Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS‐ <i>DSE</i> ): A detailed and comprehensive glycobiological and pathological investigation in a novel patient-Reference-Cited by-同舟云学术

Clinical and pathophysiological delineation of musculocontractural Ehlers—Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS‐ DSE ): A detailed and comprehensive glycobiological and pathological investigation in a novel patient

Published:2022-07-23 Issue:12 Volume:43 Page:1829-1836
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Minatogawa Mari¹²,Hirose Takuya³,Mizumoto Shuji⁴,Yamaguchi Tomomi¹²⁵,Nagae Chiai⁶,Taki Masashi⁷,Yamada Shuhei⁴,Watanabe Takafumi³,Kosho Tomoki¹²⁵⁸^ORCID

Affiliation:

1. Department of Medical Genetics Shinshu University School of Medicine Matsumoto Japan

2. Center for Medical Genetics Shinshu University Hospital Matsumoto Japan

3. Laboratory of Veterinary Anatomy, School of Veterinary Medicine Rakuno Gakuen University Ebetsu Japan

4. Department of Pathobiochemistry, Faculty of Pharmacy Meijo University Nagoya Japan

5. Division of Clinical Sequencing Shinshu University School of Medicine Matsumoto Japan

6. Department of Pediatrics St. Marianna University School of Medicine Kawasaki Japan

7. Department of Pediatrics St. Marianna University School of Medicine, Yokohama City Seibu Hospital Yokohama Japan

8. Research Center for Supports to Advanced Science Shinshu University Matsumoto Japan

Funder

Japan Agency for Medical Research and Development

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24437

Reference26 articles.

1. The Ehlers-Danlos syndromes, rare types

2. A case with adducted thumb and club foot syndrome

3. Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome

4. Structural alteration of glycosaminoglycan side chains and spatial disorganization of collagen networks in the skin of patients with mcEDS-CHST14

5. The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due toCHST14mutations

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