ArticleAmerican journal of translational research2024
Progressive osseous heteroplasia in a five-month-old boy with a mutation in exon 9 of
Article in American journal of translational research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Progressive osseous heteroplasia (POH) is an ultrarare hereditary disease that begins with cutaneous ossification, and progressive heterotopic ossification involves subcutaneous and deep connective tissues. We reported a case of POH in a five-month-old boy with clinical, pathological, and genetic features of POH. Most POH cases are caused by GNAS inactivating mutations, and the mutation of GNAS is also found in some other related heterotopic ossification conditions. A discussion of the clinical and laboratory features of these disorders is made in our case report.
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