RAI1 gene mutations: mechanisms of Smith-Magenis syndrome
https://pubmed.ncbi.nlm.nih.gov/29138588/
WEBNov 3, 2017 · SMS is caused by interstitial 17p11.2 deletions, encompassing multiple genes and including the retinoic acid-induced 1 gene ( RAI1 ), or by mutations in RAI1 itself. About 10% of all the SMS patients, in fact, carry an RAI1 mutation responsible for the phenotype.
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