Case report: exome sequencing identified mutations in the LRP5 and LGR4 genes in a case of osteoporosis with recurrent fractures and extraskeletal manifestations

Case report: exome sequencing identified mutations in the LRP5 and LGR4 genes in a case of osteoporosis with recurrent fractures and extraskeletal manifestations

BackgroundGenetic mutations have been reported in a number of bone disorders with or without extra-skeletal manifestations. The purpose of the present study was to investigate the genetic cause in a middle-aged woman with osteoporosis, recurrent fractures and extraskeletal manifestations.MethodsA 56...

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Bibliographic Details
Main Authors: Poonam Mehta, Aakriti Sharma, Anupam Goswami, Sushil Kumar Gupta, Vaibhav Singhal, Kinshuk Raj Srivastava, Naibedya Chattopadhyay, Rajender Singh
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-10-01
Series:Frontiers in Endocrinology
Subjects:
osteoporosis
low BMD
recurrent fractures
LRP5
LGR4
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2024.1475446/full
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