High frequency of copy number imbalances in Rubinstein–Taybi
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High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Genes, Free Full-Text
Genes, Free Full-Text
Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach - Ajmone - 2018 - American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - Wiley Online Library
SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements
Genes, Free Full-Text
Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach - Ajmone - 2018 - American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - Wiley Online Library
Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes
Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report - ScienceDirect
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