Microcephalic osteodysplastic primordial dwarfism type II Other names Majewski osteodysplastic primordial dwarfism type II Microcephalic osteodysplastic primordial dwarfism type II is inherited in an autosomal recessive manner Specialty Medical genetics Microcephalic osteodysplastic primordial dwarfism type II ( MOPD II) is a form of dwarfism associated with brain and skeletal abnormalities. It was characterized in 1982.
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
Notable persons with MOPD II
See also [ edit ]
References [ edit ]
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.
External links [ edit ]