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Progressive Osseous Heteroplasia is not an Autosomal Dominant Trait but Reflects Superimposed Mosaicism in Different GNAS Inactivation Disorders
Progressive osseous heteroplasia (POH) is a rarely occurring genetic condition characterized by severe segmental ossification involving the skin and deep connective tissues including the muscles. So far, the disorder is generally described as an autosomal dominant trait. By contrast, the following a...
Autor principal: | Happle, Rudolf |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8088155/ https://www.ncbi.nlm.nih.gov/pubmed/33959533 http://dx.doi.org/10.4103/idoj.IDOJ_584_20 |
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