Progressive osseous heteroplasia in a 5-year-old boy with a novel mutation in exon 2 of GNAS: a case presentation and literature review
Abstract Background Progressive osseous heteroplasia (POH) is a rare genetic condition that causes progressive ossification. This usually results from an inactivating mutation of the paternal GNAS gene. Herein, we report a case of POH caused by a novel mutation in exon 2 of the GNAS gene. Case prese...
Main Authors: | , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2023-03-01
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Series: | BMC Musculoskeletal Disorders |
Subjects: | |
Online Access: | https://doi.org/10.1186/s12891-023-06371-4 |