Microcephalic osteodysplastic primordial dwarfism type II
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| Microcephalic osteodysplastic primordial dwarfism type II | |
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| Other names: Majewski osteodysplastic primordial dwarfism type II | |
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| Microcephalic osteodysplastic primordial dwarfism type II is inherited in an autosomal recessive manner | |
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Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a form of dwarfism associated with brain and skeletal abnormalities. It was characterized in 1982.[1]
MOPD II is listed as a rare disease by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This indicates that MOPD (or a subtype of MOPD) affects less than 200,000 people in the US population.
It is associated with the protein pericentrin (PCNT).[2]Notable persons with MOPD II Lucia Zarate, sideshow entertainer
See also
References
- ↑ Majewski F, Ranke M, Schinzel A (May 1982). "Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism". Am. J. Med. Genet. 12 (1): 23–35. doi:10.1002/ajmg.1320120104. PMID 7201238.
- ↑ Rauch A, Thiel CT, Schindler D, et al. (February 2008). "Mutations in the pericentrin (PCNT) gene cause primordial dwarfism". Science. 319 (5864): 816–9. doi:10.1126/science.1151174. PMID 18174396.
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