Author:
Lazareva Julia,Sisley Stephanie R.,Brady Sheila M.,Smith Ann C.M.,Elsea Sarah H.,Pomeroy Jeremy J.,Roth Christian L.,Sprague Jennifer E.,Wabitsch Martin,Garrison Jill,Yanovski Jack A.
Reference17 articles.
1. Smith A.C.M., Boyd K.E., Brennan C., et al. Smith-Magenis Syndrome. In: Adam MP, Ardinger HH, Pagon RA, editors. GeneReviews®. Seattle: University of Washington, Seattle; 2001 [Updated 2019 Jun 20]. p. 1–30. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1310/.
2. Mutations in RAI1 associated with Smith-Magenis syndrome;Slager;Nat Genet,2003
3. Possible underreporting of pathogenic variants in RAI1 causing Smith-Magenis syndrome;Boot;Am J Med Genet,2021
4. Smith-Magenis syndrome-clinical review, biological background and related disorders;Rinaldi;Genes,2022
5. Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome;Burns;Hum Mol Genet,2010