Search results for " Comparative multiplex dosage analysis"

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Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein…

2013

Rubinstein-Taybi syndrome is a rare autosomal dominant congenital disorder characterized by postnatal growth retardation, psychomotor developmental delay, skeletal anomalies, peculiar facial morphology, and tumorigenesis. Mutations in the gene encoding the cAMP response element-binding protein (CREB, also known as CREBBP or CBP) on chromosome 16p13.3 have been identified. In addition, some patients with low intelligence quotients and autistic features bear large deletions. Based on these observations, we used multiplex ligation-dependent probe amplification to search for large deletions affecting the CREBBP gene in a Rubinstein-Taybi syndrome patient. We identified a novel heterozygote dele…

HeterozygoteCREBExonSettore BIO/13 - Biologia ApplicataGeneticsmedicineHumansMultiplexMultiplex ligation-dependent probe amplificationGenetic TestingCREB-binding proteinMolecular BiologyGeneGeneticsRubinstein-Taybi SyndromeRubinstein–Taybi syndromebiologyMultiplex ligation-dependent probe amplification Comparative multiplex dosage analysis CREB-binding protein Rubinstein-Taybi syndromeHeterozygote advantageGeneral Medicinemedicine.diseaseMolecular biologyCREB-Binding ProteinChild Preschoolbiology.proteinFemaleMultiplex Polymerase Chain ReactionGene Deletion
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