Heteroplasmy is the presence of more than one type of organellar genome (mitochondrial DNA or plastid DNA) within a cell or individual. It is an important factor in considering the severity of mitochondrial diseases.

Progressive osseous heteroplasia is a disorder in which bone forms within skin and muscle tissue. Bone that forms outside the skeleton is called heterotopic or ectopic bone. In progressive osseous heteroplasia, ectopic bone formation begins in the deep layers of the skin (dermis and subcutaneous fat) and gradually moves into other tissues such ...

Progressive osseous heteroplasia (POH) is an ultrarare genetic condition of progressive ectopic ossification. Most cases of POH are caused by heterozygous inactivating mutations of GNAS, the gene encoding the alpha subunit of the G-stimulatory protein of adenylyl cyclase.

2024年5月7日 · 文献标题：Genetic Disorders of Heterotopic Ossification: Fibrodysplasia Ossificans Progressiva and Progressive Osseous Heteroplasia. 文献作者： Frederick S. Kaplan1 , Robert J. Pignolo2 , Mona Al Mukaddam1 , and Eileen M. Shore1.

2015年1月30日 · Progressive osseous heteroplasia (POH) is an ultrarare genetic condition of progressive ectopic ossification. Most cases of POH are caused by heterozygous inactivating mutations of GNAS, the gene encoding the alpha subunit of …

Progressive osseous heteroplasia (POH) is a rare genetic condition in which the body makes extra bone in locations where bone should not form. Extra bone develops inside skin, subcutaneous tissue (fat tissue beneath the skin), muscles, tendo ns, and ligaments. This "out-of-place extra bone formation" is commonly referred to as heterotopic

Progressive Osseous Heteroplasia (POH) is a rare genetic condition in which the body makes extra bone in locations where bone should not form. Extra bone develops inside skin, subcutaneous tissue (fat tissue beneath the skin), muscles, tendons, and ligaments.

Progressive osseous heteroplasia (POH) is a recently described genetic disorder of mesenchymal differentiation characterized by dermal ossification during infancy and progressive heterotopic ossification of cutaneous, subcutaneous, and deep connective tissues during childhood.

2024年7月30日 · Progressive osseous heteroplasia (POH) is an extremely rare disorder characterized by abnormal development of bone in areas of the body where bone is not normally present (heterotopic ossification).

2008年7月7日 · Progressive osseous heteroplasia (POH) is a rare, disabling disease of heterotopic ossification (HO) that progresses from skin and subcutaneous tissues into deep skeletal muscle. POH occurs in the absence of multiple developmental features of Albright hereditary osteodystrophy (AHO) or hormone resistance, clinical manifestations that are also ...