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

• প্রধান লেখক: Rudolf Happle (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: Wolters Kluwer Medknow Publications, 2021-01-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: 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...