Case Report: Two Monochorionic Twins With a Critically Different Course of Progressive Osseus Heteroplasia.

ABSTRACT: Progressive osseous heteroplasia (POH; OMIM 166350) is a rare autosomal-dominant genetic disorder in which extra-skeletal bone forms within skin and muscle tissue. POH is one of the clinical manifestations of an inactivating mutation in the GNAS gene. GNAS gene alterations are difficult matter to address, as GNAS alleles show genetic imprinting and produce several transcript products, and the same mutation may lead to strikingly different phenotypes. Also, most of the publications concerning POH patients are either clinical depictions of a case (or a case series), descriptions of their genetic background, or a tentative correlation of both clinical and molecular findings. Treatment for POH is rarely addressed, and POH still lacks therapeutic options. We describe a uniq

SUBMITTER: Justicia-Grande AJ 

PROVIDER: S-EPMC8260848 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature