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noonan syndrome
Noonan Syndrome
Type of Mutation
Noona Syndrome is a chromosomal mutation, meaning that it could affect varios things like unusual facial charactristics, short stature, heart defects, and other physical problems and development delays.
Topic 1
name of location, area affected, and chromosomal number
Noonan Syndrome is affectd in many places but mostly in the neck and chest. Its chromosomal number is 12,
Topic 2
How does the mutation cause disease?
Topic 3
Nonnan Syndrome is usally caused by a genetic mutation and is developed when a child inharits a copy of an affected gene by a parent. It can also be a spontaious mutation, that means no family history may have been involved
Type of inheritance
children with Boonan Syndrome are usally born with it, that meaning it's dominant.
Topic 4
recent news
new aspects reserchers have found are: decresed fertility in men, lean phenotypewith increased energy expendenture and possible impact on carbohydrate metadolism/insulin sensintivity, and bone health. So yes, Noonan Syndrome can affect you physically but it can also affect a child internally.
Topic 5
clinical trials
https://www.clinicaltrialsregister.eu/ctr-search/search?query=Noonan+Syndrome
Topic 6
family support group
The Noona Syndrome Foundation is an orginization that was created to help support, educate, and advicate for on behalf of all those who have been affected by noonan syndrome.
https://www.teamnoonan.org/#:~:text=The%20Noonan%20Syndrome%20Foundation%20is,been%20affected%20by%20Noonan%20Syndrome.