MON-512 A De Novo Frameshift Mutation of FAM111B Gene Resulting in Progressive Osseous Heteroplasia in an African American Boy: First Case Report

Introduction: Progressive osseous heteroplasia (POH) is a rare bone disorder characterized by heterotopic ossification in the skin and muscles, resulting in contractures of the joints and progressive loss of function. Whereas 60-70% of the POH patients have paternally inherited inactivating mutation...

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Vydáno v:J Endocr Soc
Hlavní autoři: Panjawatanan, Panadeekarn, Ryabets-Lienhard, Anna, Bakhach, Marwan, Pitukcheewanont, Pisit
Médium: Artigo
Jazyk:Inglês
Vydáno: Endocrine Society 2019
Témata:
Bone and Mineral Metabolism
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6550964/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-MON-512
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