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Rapid Communication | Open Access

Pathogenic variants in GBX2 cause craniofacial microsomia

ENT Institute, Department of Facial Plastic and Reconstructive Surgery, Eye & ENT Hospital, Fudan University, Shanghai 200031, China
Institute of Special Environmental Medicine, Nantong University, Nantong, Jiangsu 226001, China
Department of Stomatology, Affiliated Hospital of Nantong University, Nantong, Jiangsu 226001, China
Institute of Pediatrics and Department of Hematology and Oncology, Children’s Hospital of Fudan University, National Children’s Medical Center, and the Shanghai Key Laboratory of Medical Epigenetics, International Co-Laboratory of Medical Epigenetics and Metabolism (Ministry of Science and Technology), Institutes of Biomedical Sciences, Fudan University, Shanghai 200032, China
School of Life Science, Nantong Laboratory of Development and Diseases, and Co-Innovation Center of Neuroregeneration, Nantong University, Nantong, Jiangsu 226001, China
NHC Key Laboratory of Hearing Medicine, Fudan University, Shanghai 200031, China
Institute of Medical Genetics & Genomics, Fudan University, Shanghai 200032, China

h These authors contributed equally to this work.

Peer review under the responsibility of Chongqing Medical University.

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Genes & Diseases
Volume 13 Issue 4,
July 2026
DOI: 10.1016/j.gendis.2025.101814

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Cite this article:
Yang R, Han W, Wang L, et al. Pathogenic variants in GBX2 cause craniofacial microsomia. Genes & Diseases, 2026, 13(4). https://doi.org/10.1016/j.gendis.2025.101814

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Received: 14 February 2025
Published: 21 August 2025
© 2025 The Authors.

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