Results 1 -
6
of
6
for
EP300
- The EP300 gene provides instructions for making a protein called p300, which regulates the activity of many genes in tissues throughout the body. This protein ...
- ... symptoms of Rubinstein-Taybi syndrome.Mutations in the EP300 gene cause a small percentage of cases of ... be important for development before and after birth. EP300 gene mutations result in the loss of one ...
- ... delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome. Am ... Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet. 2005 ...
- ... use of urinary catheters. ARID1A ATM CDKN2A CREBBP EP300 FGFR3 HRAS KDM6A KMT2D PIK3CA PTEN RAF1 RB1 ...
- ... at an early age. AR BRCA1 BRCA2 CDH1 EP300 EZH2 FGFR2 FGFR4 GNMT HNF1B HOXB13 IGF2 ITGA6 ...
- ... rare condition. Variations in the genes CREBBP or EP300 are seen in some people with this condition. ...