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- Q6422092 subject Q6313232.
- Q6422092 subject Q6853266.
- Q6422092 subject Q6853345.
- Q6422092 abstract "Kniest Dysplasia is a rare form of dwarfism caused by a mutation in the COL2A1 gene on chromosome 12. The COL2A1 gene is responsible for producing type II collagen. The mutation of COL2A1 gene leads to abnormal skeletal growth and problems with hearing and vision. What characterizes kniest dysplasia from other type II Osteochondrodysplasia is the level of severity and the dumb-bell shape of shortened long tubular bones. This condition was first diagnosed by Dr. Wilhelm Kniest in 1952. Dr. Kniest noticed that his 50 year old patient was having difficulties with restricted joint mobility. The patient had a short stature and was also suffering from blindness. Upon analysis of the patient's DNA, Dr. Kniest discovered that a mutation had occurred at a splice site of the COL2A1 gene. This condition is very rare and occurs less than 1 in 1,000,000 people. Males and females have equal chances of having this condition. Currently, there is no cure for kniest dysplasia. Alternative names for Kniest Dysplasia can include Kniest Syndrome, Swiss Cheese Cartilage Syndrome, Kniest Chondrodystrophy, or Metatrophic Dwarfism Type II.".
- Q6422092 thumbnail Ethan_Crough,_male_dwarf.jpg?width=300.
- Q6422092 wikiPageWikiLink Q127724.
- Q6422092 wikiPageWikiLink Q1410069.
- Q6422092 wikiPageWikiLink Q1415380.
- Q6422092 wikiPageWikiLink Q14877681.
- Q6422092 wikiPageWikiLink Q161238.
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- Q6422092 wikiPageWikiLink Q194101.
- Q6422092 wikiPageWikiLink Q2167748.
- Q6422092 wikiPageWikiLink Q2353265.
- Q6422092 wikiPageWikiLink Q237218.
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- Q6422092 wikiPageWikiLink Q3251367.
- Q6422092 wikiPageWikiLink Q32566.
- Q6422092 wikiPageWikiLink Q373027.
- Q6422092 wikiPageWikiLink Q3766250.
- Q6422092 wikiPageWikiLink Q427157.
- Q6422092 wikiPageWikiLink Q5165502.
- Q6422092 wikiPageWikiLink Q5959327.
- Q6422092 wikiPageWikiLink Q6313232.
- Q6422092 wikiPageWikiLink Q6452282.
- Q6422092 wikiPageWikiLink Q6531938.
- Q6422092 wikiPageWikiLink Q6853266.
- Q6422092 wikiPageWikiLink Q6853345.
- Q6422092 wikiPageWikiLink Q754447.
- Q6422092 wikiPageWikiLink Q7860608.
- Q6422092 wikiPageWikiLink Q855172.
- Q6422092 comment "Kniest Dysplasia is a rare form of dwarfism caused by a mutation in the COL2A1 gene on chromosome 12. The COL2A1 gene is responsible for producing type II collagen. The mutation of COL2A1 gene leads to abnormal skeletal growth and problems with hearing and vision. What characterizes kniest dysplasia from other type II Osteochondrodysplasia is the level of severity and the dumb-bell shape of shortened long tubular bones. This condition was first diagnosed by Dr. Wilhelm Kniest in 1952. Dr.".
- Q6422092 label "Kniest dysplasia".
- Q6422092 depiction Ethan_Crough,_male_dwarf.jpg.