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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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Vydáno v:Indian Dermatol Online J
Hlavní autor: Happle, Rudolf
Médium: Artigo
Jazyk:Inglês
Vydáno: Wolters Kluwer - Medknow 2021
Témata:
On-line přístup: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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