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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...

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書目詳細資料
發表在:Indian Dermatol Online J
主要作者: Happle, Rudolf
格式: Artigo
語言:Inglês
出版: Wolters Kluwer - Medknow 2021
主題:
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC8088155/
https://ncbi.nlm.nih.gov/pubmed/33959533
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/idoj.IDOJ_584_20
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