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

Internet

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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