Results 1 -
10
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149
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down syndrome
- ... cells, a condition known as trisomy 21 or Down syndrome.Approximately 10 percent of people with Down syndrome develop TAM, usually at birth or soon after. ...
- ... increase the risk of having a child with Down syndrome, a condition characterized by intellectual disability and associated ... and the risk of neural tube defects or Down syndrome. Many factors play a part in determining the ...
- ... increases the risk of having a child with Down syndrome, which is a condition characterized by intellectual disability ... and the risk of neural tube defects or Down syndrome. Many factors play a part in determining the ...
- ... a protein that is unstable and easily broken down. As a result, people with Kuskokwim syndrome have only about 5 percent of the normal ...
- ... abnormally short, unstable protein that is quickly broken down. Other RAB23 gene mutations that cause Carpenter syndrome reduce or eliminate function of the Rab23 protein. ...
- ... an abnormally short protein that gets quickly broken down. These mutations contrast with those that cause MCTT syndrome, which are at the end of the gene ...
- ... the stratum corneum is unusually thin and breaks down easily, resulting in the skin abnormalities that occur in Netherton syndrome. Loss of LEKT1 function also results in abnormal ...
- ... is necessary for the NICD to be broken down, which stops Notch2 signaling at the appropriate time. NOTCH2 gene mutations appear to be a relatively uncommon cause of Alagille syndrome, a condition that can affect the liver, heart, ...
- ... between nerve cells and muscle cells by breaking down the signaling protein acetylcholine. More than 35 mutations in the COLQ gene have been found to cause congenital myasthenic syndrome. Most of these mutations change single protein building ...
- ... another important protein called CSB is not broken down by exposure to UV rays. Mutations in the UVSSA gene cause UV-sensitive syndrome, which is a disorder characterized by sun sensitivity. ...
