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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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Indian Dermatol Online J
Prif Awdur: Happle, Rudolf
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Wolters Kluwer - Medknow 2021
Pynciau:
Mynediad Ar-lein: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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