Case report: exome sequencing identified mutations in the LRP5 and LGR4 genes in a case of osteoporosis with recurrent fractures and extraskeletal manifestations
Heterozygous mutations in the <i>LRP5</i> and <i>LGR4</i> genes had additive deteriorative effects on BMD, resulting in recurrent fractures and bone deformities, and extended the effect to extraskeletal sites, contributing to the poor overall health in this patient.
Authors
- Poonam Mehta (ORCID: https://orcid.org/0000-0002-9012-1417)
- Singh Rajender (ORCID: https://orcid.org/0000-0002-4592-6566)
- Naibedya Chattopadhyay (ORCID: https://orcid.org/0000-0003-2473-0246)
- Kinshuk Raj Srivastava (ORCID: https://orcid.org/0000-0002-3688-9652)
- Vaibhav Singhal (ORCID: https://orcid.org/0000-0001-6116-1586)
- Aakriti Sharma (ORCID: https://orcid.org/0000-0001-9727-1867)
- Anupam Goswami
- Sushil Gupta
Institutions
- Sanjay Gandhi Post Graduate Institute of Medical Sciences (IN)
- Central Drug Research Institute (IN)
- Academy of Scientific and Innovative Research (IN)
Publication Details
- Journal
- Frontiers in Endocrinology
- Published
- 2024-10-25
- DOI
- https://doi.org/10.3389/fendo.2024.1475446
- Citations
- 2
- Primary Topic
- Wnt/β-catenin signaling in development and cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.47
Funders
- Council of Scientific and Industrial Research, India
- University Grants Commission