Progressive osseous heteroplasia is not an autosomal dominant trait but reflects superimposed mosaicism in different GNAS inactivation disorders

• Auteur principal: Rudolf Happle (Auteur)
• Format: Livre
• Publié: Wolters Kluwer Medknow Publications, 2021-01-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

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...