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Rubinstein-Taybi syndrome
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
EP300
CREBBP
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
TAZ domain superfamily
CBP/p300-type histone acetyltransferase domain
Nuclear receptor coactivator, CREB-bp-like, interlocking
Coactivator CBP, KIX domain
CREB-binding protein/p300, atypical RING domain
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Curated Studies
Most Correlated Studies
Mouse Phenotypes - Dwarfism
OMIM - Congenital disorder
Cancer Gene Census - mutations in cancer genes
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Literature
Most Relevant Literature
Germline mosaicism in Rubinstein-Taybi syndrome.
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficie…
The association of neural axis and craniovertebral junction anomalies with scoliosis in Rubinstein-T…
A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with …
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected…
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Clinical Trials
Most Relevant Clinical Trials
Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial
Functional Tests to Resolve Unsolved Rare Diseases. Rares.
The Diagnostic Observatory: Combating Diagnostic Wandering and Impasse Within the AnDDI-Rares Networ…
Growth Hormone Treatment of Children Born With Retarded Intrauterine Growth at Age 2-5 Years
Diagnosis of RSTS: Identification of the Acetylation Profiles as Epigenetic Markers for Assessing Ca…
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