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Quoted phrase not found in phrase index: "Rubinstein-Taybi syndrome due to 16p13.3 microdeletion"
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Molecular insight into CREBBP and TANGO2 variants causing intellectual disability.
Hussain SI, Muhammad N, Khan N, Khan M, Fardous F, Tahir R, Yasin M, Khan SA, Saleha S, Muhammad N, Wasif N, Khan S. Hussain SI, et al. J Gene Med. 2024 Jan;26(1):e3591. doi: 10.1002/jgm.3591. Epub 2023 Sep 18. J Gene Med. 2024. PMID: 37721116
BACKGROUND: Intellectual disability (ID) can be associated with different syndromes such as Rubinstein-Taybi syndrome (RSTS) and can also be related to conditions such as metabolic encephalomyopathic crises, recurrent,with rhabdomyolysis, cardiac arrhythmias …
BACKGROUND: Intellectual disability (ID) can be associated with different syndromes such as Rubinstein-Taybi syndrome ( …
Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome.
Blough RI, Petrij F, Dauwerse JG, Milatovich-Cherry A, Weiss L, Saal HM, Rubinstein JH. Blough RI, et al. Am J Med Genet. 2000 Jan 3;90(1):29-34. doi: 10.1002/(sici)1096-8628(20000103)90:1<29::aid-ajmg6>3.0.co;2-z. Am J Med Genet. 2000. PMID: 10602114
Most reported microdeletions of the CREB-binding protein (CBP) gene in the Rubinstein-Taybi syndrome (RTS) were detected by fluorescence in situ hybridization (FISH) with a single cosmid probe specific to the 3' region of the gene. ...No phenotypic dif …
Most reported microdeletions of the CREB-binding protein (CBP) gene in the Rubinstein-Taybi syndrome (RTS) were …