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Rapid Communication | Open Access

Identification of novel compound heterozygous variants of the PNPLA6 gene in Oliver-McFarlane syndrome with concomitant insulin resistance

Ruojun Qiua, Mingming Tangb, Weifen Zhua, Binghong Wangc, Wenyu Lid, Yongzhen Leia, Fenping Zhenga( )
Department of Endocrinology, The Affiliated Sir Run Run Shaw Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang 310016, China
Department of Endocrinology, Jiading District Central Hospital Affiliated Shanghai University of Medicine & Health Sciences, Shanghai 201899, China
Department of Ophthalmology, The Affiliated Sir Run Run Shaw Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang 310016, China
Department of Neurology, The Affiliated Sir Run Run Shaw Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang 310016, China

Peer review under the responsibility of Chongqing Medical University.

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Genes & Diseases
Volume 13 Issue 5,
September 2026
DOI: 10.1016/j.gendis.2025.101985

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Cite this article:
Qiu R, Tang M, Zhu W, et al. Identification of novel compound heterozygous variants of the PNPLA6 gene in Oliver-McFarlane syndrome with concomitant insulin resistance. Genes & Diseases, 2026, 13(5). https://doi.org/10.1016/j.gendis.2025.101985

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Received: 03 July 2025
Published: 14 December 2025
© 2025 The Authors.

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