Progressive osseous heteroplasia in a 5-year-old boy with a novel mutation in exon 2 of GNAS: a case presentation and literature review

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...

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Bibliographic Details
Main Authors: Jing Ma, Wenxiu Mo, Jiapeng Sun, Yan Li, Tongxin Han, Huawei Mao
Format: Article
Language:English
Published: BMC 2023-03-01
Series:BMC Musculoskeletal Disorders
Subjects:
Progressive osseous heteropalasia
GNAS gene
Novel mutation
Heterotopic ossification
Online Access:https://doi.org/10.1186/s12891-023-06371-4

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