Rubinstein-Taybi Syndrome – from Genetic Basis of Mental Retardation Till Clinical Genetic Evaluation: a Case Report
Birutė Burnytė, Algirdas Utkus, Vaidas Dirsė, Vaidutis Kučinskas Abstract Rubinstein–Taybi syndrome is detected in patients who have such clinical features as mental retardation, growth retardation, broad thumbs and toes, retarded osseous maturation, microcephaly, typical craniofacial abnormalities. Rubinstein–Taybi syndrome is related to two groups of genetic causes. In more than half of all cases, mutations (point…