Microcephalic osteodysplastic primordial dwarfism type II

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Microcephalic osteodysplastic primordial dwarfism type II
Other namesMajewski osteodysplastic primordial dwarfism type II
Autosomal recessive - en.svg
Microcephalic osteodysplastic primordial dwarfism type II is inherited in an autosomal recessive manner
SpecialtyMedical genetics Edit this on Wikidata

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that MOPD, or a subtype of MOPD, affects less than 200,000 people in the US population and a form of dwarfism associated with brain and skeletal abnormalities.

It was characterized in 1982.[1]

It is associated with PCNT.[2]

See also[edit]

References[edit]

  1. ^ 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.
  2. ^ 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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