Rubinstein-Taybi Syndrome - an overview

Por um escritor misterioso

Last updated 22 dezembro 2024

Rubinstein-Taybi Syndrome: Symptoms, Causes, Treatment

Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene

Rubinstein taybi syndrome

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP

Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant

In March 2001, the National Institutes of Health issued the following warning: The number of Web sites offering health-related resources grows every