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Rapid Communication | Open Access

Genetic complexity underlies clinical heterogeneity: YWTD β-propeller mutations and second-hit modifier mutations in LRP6-related tooth agenesis and ectodermal dysplasia in human

Xinxin Donga,b,d,1, Miao Yuc,1, Zhaoyang Jiaa,1, Jinye Baia, Jing Zhanga, Shengnan Linga, Limin Guana,b, Yi Lua,b( ), Dong Hanc ( ), Xiwen Gua,e( )
Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research, Research Center of Stomatology, College of Stomatology, Xi’an Jiaotong University, Xi’an, Shaanxi 710004, China
Department of Prosthodontics, College of Stomatology, Xi’an Jiaotong University, Xi’an, Shaanxi 710004, China
Department of Prosthodontics, Peking University School and Hospital of Stomatology & National Center for Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Research Center of Oral Biomaterials and Digital Medical Devices & Central Laboratory, Peking University School and Hospital of Stomatology, Beijing 100081, China
Department of Stomatology, Xi’an Children’s Hospital, Xi’an, Shaanxi 710003, China
State Key Laboratory of Holistic Integrative Management of Gastrointestinal Cancers and Department of Pathology, Xijing Hospital and School of Basic Medicine, Fourth Military Medical University, Xi’an, Shaanxi 710000, 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).

1 These authors contributed equally to this work.

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Genes & Diseases
Volume 12 Issue 6,
November 2025
Article number: 101541
DOI: 10.1016/j.gendis.2025.101541

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Dong X, Yu M, Jia Z, et al. Genetic complexity underlies clinical heterogeneity: YWTD β-propeller mutations and second-hit modifier mutations in LRP6-related tooth agenesis and ectodermal dysplasia in human. Genes & Diseases, 2025, 12(6): 101541. https://doi.org/10.1016/j.gendis.2025.101541

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Received: 07 April 2024
Published: 22 January 2025
© 2025 The Authors.

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