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...

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Auteur principal: Rudolf Happle (Auteur)
Format: Livre
Publié: Wolters Kluwer Medknow Publications, 2021-01-01T00:00:00Z.
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