Article
Progressive osseous heteroplasia in a 5-year-old boy with a novel mutation in exon 2 of GNAS: a case presentation and literature review.
BMC musculoskeletal disorders - 31 Mar 2023
Ma Jing, Mo Wenxiu, Sun Jiapeng, Li Yan, Han Tongxin, Mao Huawei
Abstract excerpt
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 PRESENTATION: A 5-year-old Chinese boy was referred to our hospital for a growing mass in his right foot. Although laboratory...
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