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

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:...

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Detalles Bibliográficos
Autores principales:	Ma, Jing, Mo, Wenxiu, Sun, Jiapeng, Li, Yan, Han, Tongxin, Mao, Huawei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10064707/ https://www.ncbi.nlm.nih.gov/pubmed/37003989 http://dx.doi.org/10.1186/s12891-023-06371-4

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