... may contain more recent information. — ED. Table A. Smith-Magenis Syndrome: Genes and ... are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...

... to the renal abnormalities [ Goh et al 2012 ]. References Literature Cited Bi W. Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome. Hum Mol Genet. 2005; 14 :983–95. [ PubMed : ...

... autism-associated genes including UBE3A ( Angelman syndrome ), RAI1 ( Smith-Magenis syndrome ), TCF4 ( Pitt-Hopkins syndrome ), MEF2C (5q14.3 deletion ... other neurogenetic conditions. She studies the following disorders: Smith-Magenis syndrome, MAND – 2q23.1 deletion syndrome and 2q23.1 ...

... as compared to those with syndromic CNVs (like Smith-Magenis syndrome , where the proportion of males is ~50%), suggesting ... et al 2013 ] – is similar to that of Smith-Magenis syndrome , suggesting that Smith-Magenis syndrome and 16p12.2 ...

... in contrast to the sleep disturbance observed in Smith-Magenis syndrome . Sleep disturbance in affected adolescents and young adults ... incl: Brachycephaly Protruding tongue Hypotonia Hypertelorism Midface retrusion Smith-Magenis syndrome Deletion or mutation of RAI1 on chromosome 17p11. ...

... Prader-Willi syndrome, Rett syndrome, Rubinstein-Taybi syndrome, Smith-Magenis syndrome, velocardiofacial syndrome, and Williams syndrome. For patients with ...

... detection rate as compared to Williams syndrome and Smith-Magenis syndrome deletions, one laboratory estimated that the frequency of ... Gene Locus Links Similar articles in PubMed Review Smith-Magenis Syndrome. [GeneReviews(®). 1993] Review Smith-Magenis Syndrome. Smith ACM, ...

... CrossRef ] 3680. Klukowski M, Wasilewska J, Lebensztejn D. Smith-Magenis syndrome and its circadian influence on development, behavior, and ... C. Differences in social motivation in children with Smith–Magenis syndrome and Down syndrome. Journal of Autism and Developmental ...

... CrossRef ] 3636. Klukowski M, Wasilewska J, Lebensztejn D. Smith-Magenis syndrome and its circadian influence on development, behavior, and ... C. Differences in social motivation in children with Smith–Magenis syndrome and Down syndrome. Journal of Autism and Developmental ...

... 17p11.2 deletion or intragenic RAI1 pathogenic variant Smith-Magenis syndrome (SMS) Distinctive physical features, DD, ID, behavioral abnormalities, ... BP, Velleman SL, Osborne LR. GeneReviews(®). 1993 Review Smith-Magenis Syndrome. [GeneReviews(®). 1993] Review Smith-Magenis Syndrome. Smith ACM, ...