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, Hiroko; Syx, D.; Sonoda, T.; Janecke, A.R.; Slavotinek, A.; Voermans, N.C.; Miyake, Noriko; Kosho, T.

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Publication year

2022

Author(s)

Syx, D.

Source

Journal of Medical Genetics, 59, 9, (2022), pp. 865-877

ISSN

0022-2593

DOI

https://doi.org/10.1136/jmedgenet-2020-107623

Publication type

Article / Letter to editor

Please use this identifier to cite or link to this item: https://hdl.handle.net/2066/287515

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

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