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Who discovered achondroplasia? |
Who discovered achondroplasia? Not recorded in history. The gene that causes achondroplasia was discovered by Dr. John Wasmuth and his colleagues in 1994. Check the Journal of American Medicine. In 1994 Dr. John Wasmuth and his colleagues discovered that a mutation of the fibroblast growth factor receptor-3 (FGFR3) gene on human chromosome 4 causes achondroplasia. |
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FGFR3 gene Diagnosis/testing. Achondroplasia can be diagnosed by characteristic clinical and radiographic findings in most affected individuals. In individuals who may be too young to diagnose ... achondroplasia - Improper development of cartilage at the ends of the long bones, resulting in a form of congenital dwarfism. ...There are some genetically related disorders including: Hypochondroplasia FGFR-related craniosynostosis Thanatophoric dysplasia SADDAN dysplasia=Severe achondroplasia ...try www.webmd.com alot of answers are there. if that doesnt help go to your local hospital and ask where you may find info on it, and if there is support groups in your area for it. good luck ...Dwarfism! Little people! They guy that plays Mini-Me on the Austin Powers movies The family on "Small World" coming up this fall That actor in "Elf" that is mistaken by El... Achondroplasia is a genetic disorder of bone growth that is evident at birth. It affects about one in every 25,000 births and it occurs in all races and in both sexes. Its depiction in ancient Egyp... Achondroplasia is one of the causes of dwarfism - ... The source below says that it is generally caused by a point mutation in the FGFR3 gene. ... |
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