Rubinstein-Taybi Syndrome
Por um escritor misterioso
Descrição
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
Rubinstein-Taybi syndrome, Radiology Reference Article
Rubinstein-Taybi Syndrome: A Complete Overview — DermNet
Rubinstein-Taybi Syndrome by Alexandra Wilegus
Rubinstein-Taybi syndrome - Atlas of Human Malformation Syndromes in Diverse Populations
Rubinstein - Taybi Syndrome (Rubinstein syndrome, broad thumb-hallux syndrome, broad thumbs and great toes, characteristic facies and mental retardation) - Dermatology Advisor
A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot
Rubinstein-Taybi Syndrome
Long-term results following osteotomy of the thumb delta phalanx in Rubinstein–Taybi Syndrome - A. Jain, S. Rehman, G. Smith, 2010
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
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