Rubinstein-Taybi Syndrome
Por um escritor misterioso
Descrição
A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot
a,b: Patient A at 3 weeks; c,d: Patient B at 6 weeks, note the opening
Rubinstein taybi syndrome
Rubinstein-Taybi Syndrome: A case report
Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease - ScienceDirect
Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature
Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
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Rubinstein-Taybi Syndrome: Symptoms, Causes, Treatment
Rubinstein-Taybi syndrome (broad thumb-hallux syndrome)
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