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Rapid Communication | Open Access

Novel compound heterozygous TTN gene variants with additional potential contributory mutations in two sisters with severe scoliosis: A case report

Huaiyuan Wanga, Shengjie Lib, Weiyun Chena( ), Jianxiong Shenc
Department of Anesthesiology, Peking Union Medical College Hospital, Beijing 100730, China
Biomedical Engineering Facility of National Infrastructures for Translational Medicine, Peking Union Medical College Hospital, Beijing 100730, China
Department of Orthopedic Surgery, Peking Union Medical College Hospital, Beijing 100730, China

Peer review under the responsibility of the Genes & Diseases Editorial Office, in alliance with the Association of Chinese Americans in Cancer Research (ACACR, Baltimore, MD, USA).

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Genes & Diseases
Volume 12 Issue 3,
May 2025
Article number: 101477
DOI: 10.1016/j.gendis.2024.101477

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Cite this article:
Wang H, Li S, Chen W, et al. Novel compound heterozygous TTN gene variants with additional potential contributory mutations in two sisters with severe scoliosis: A case report. Genes & Diseases, 2025, 12(3): 101477. https://doi.org/10.1016/j.gendis.2024.101477

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Received: 12 January 2024
Published: 03 December 2024
© 2024 The Authors.

This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).