The Rubinstein-Taybi syndrome: a report of two cases.
Por um escritor misterioso
Descrição
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High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
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Rubinstein-Taybi Syndrome: A Complete Overview — DermNet
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Novel heterozygous variants in the EP300 gene cause Rubinstein–Taybi syndrome 2: Reports from two Chinese children - Du - 2023 - Molecular Genetics & Genomic Medicine - Wiley Online Library
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Rubinstein-Taybi syndrome associated with breast cancer — a case report
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Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome
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Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature
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PDF) Rubinstein-Taybi Syndrome: A Case Report
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Rubinstein-Taybi syndrome: A report of two siblings with unreported cutaneous stigmata - Indian Journal of Dermatology, Venereology and Leprology
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Genes, Free Full-Text
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Rubinstein-Taybi syndrome, medical and dental care for special needs patients: Clinical case report
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Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
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A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
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Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
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