Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).

Minatogawa M, Unzaki A, Morisaki H, Syx D, Sonoda T, Janecke AR, Slavotinek A, Voermans NC, Lacassie Y, Mendoza-Londono R, Wierenga KJ, Jayakar P, Gahl WA, Tifft CJ, Figuera LE, Hilhorst-Hofstee Y, Maugeri A, Ishikawa K, Kobayashi T, Aoki Y, Ohura T, Kawame H, Kono M, Mochida K, Tokorodani C, Kikkawa K, Morisaki T, Kobayashi T, Nakane T, Kubo A, Ranells JD, Migita O, Sobey G, Kaur A, Ishikawa M, Yamaguchi T, Matsumoto N, Malfait F, Miyake N, Kosho T

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DOI: 10.1136/jmedgenet-2020-107623
Published: 2022 Sep
Container: Journal of medical genetics
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1136/jmedgenet-2020-107623,
  title = {Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).},
  author = {Minatogawa M and Unzaki A and Morisaki H and Syx D and Sonoda T and Janecke AR and Slavotinek A and Voermans NC and Lacassie Y and Mendoza-Londono R and Wierenga KJ and Jayakar P and Gahl WA and Tifft CJ and Figuera LE and Hilhorst-Hofstee Y and Maugeri A and Ishikawa K and Kobayashi T and Aoki Y and Ohura T and Kawame H and Kono M and Mochida K and Tokorodani C and Kikkawa K and Morisaki T and Kobayashi T and Nakane T and Kubo A and Ranells JD and Migita O and Sobey G and Kaur A and Ishikawa M and Yamaguchi T and Matsumoto N and Malfait F and Miyake N and Kosho T},
  year = {2022},
  journal = {Journal of medical genetics},
  doi = {10.1136/jmedgenet-2020-107623},
  url = {https://doi.org/10.1136/jmedgenet-2020-107623}
}

RIS

TY  - JOUR
TI  - Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
AU  - Minatogawa M
AU  - Unzaki A
AU  - Morisaki H
AU  - Syx D
AU  - Sonoda T
AU  - Janecke AR
AU  - Slavotinek A
AU  - Voermans NC
AU  - Lacassie Y
AU  - Mendoza-Londono R
AU  - Wierenga KJ
AU  - Jayakar P
AU  - Gahl WA
AU  - Tifft CJ
AU  - Figuera LE
AU  - Hilhorst-Hofstee Y
AU  - Maugeri A
AU  - Ishikawa K
AU  - Kobayashi T
AU  - Aoki Y
AU  - Ohura T
AU  - Kawame H
AU  - Kono M
AU  - Mochida K
AU  - Tokorodani C
AU  - Kikkawa K
AU  - Morisaki T
AU  - Kobayashi T
AU  - Nakane T
AU  - Kubo A
AU  - Ranells JD
AU  - Migita O
AU  - Sobey G
AU  - Kaur A
AU  - Ishikawa M
AU  - Yamaguchi T
AU  - Matsumoto N
AU  - Malfait F
AU  - Miyake N
AU  - Kosho T
PY  - 2022
JO  - Journal of medical genetics
DO  - 10.1136/jmedgenet-2020-107623
UR  - https://doi.org/10.1136/jmedgenet-2020-107623
ER  -

APA

M, M., A, U., H, M., D, S., T, S., AR, J., A, S., NC, V., Y, L., R, M., KJ, W., P, J., WA, G., CJ, T., LE, F., Y, H., A, M., K, I., T, K., Y, A., T, O., H, K., M, K., K, M., C, T., K, K., T, M., T, K., T, N., A, K., JD, R., O, M., G, S., A, K., M, I., T, Y., N, M., F, M., N, M., & T, K. (2022). Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).. Journal of medical genetics. https://doi.org/10.1136/jmedgenet-2020-107623

Source records

pubmed · retrieved 2026-09-27T06:23:59.964Z