Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans

Source:http://linkedlifedata.com/resource/umls/id/C2674173

MSH: A rare disorder of bone growth characterized by skeletal, brain, and skin abnormalities. (Genetic Home Reference[Internet]. Bethesda, MD: National Library of Medicine(US); updated 2010 June 6; cited 2010 July 9; Available from: http://ghr.nlm.nih.gov/condition=saddan/.) This disorder is associated with mutations in RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3.

Download in:

View as