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Rapid Communication | Open Access

Newly identified intronic and known pathogenic point mutations in SLC34A3/NPT2c cause hereditary hypophosphatemic rickets with hypercalciuria

Yujing Sun1, Yuan Liu1, Xiaoli Zhang( ), Ling Jiang( )
Department of Endocrinology, Qilu Hospital, Cheeloo College of Medicine, Institute of Endocrine and Metabolic Diseases of Shandong University, Jinan Clinical Research Center for Endocrine and Metabolic Diseases, Jinan, Shandong 250012, China

1 These authors contributed equally to this work and shared the first authorship.

Peer review under responsibility of Chongqing Medical University.

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References

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Genes & Diseases
Volume 12 Issue 2,
March 2025
Article number: 101318
DOI: 10.1016/j.gendis.2024.101318
Cite this article:
Sun Y, Liu Y, Zhang X, et al. Newly identified intronic and known pathogenic point mutations in SLC34A3/NPT2c cause hereditary hypophosphatemic rickets with hypercalciuria. Genes & Diseases, 2025, 12(2): 101318. https://doi.org/10.1016/j.gendis.2024.101318

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Received: 27 September 2023
Published: 07 May 2024
© 2024 The Authors.

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