| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5907438 | Gene | 2012 | 4 Pages |
Abstract
⺠We report a Chinese patient with features of Rubinstein-Taybi syndrome (RSTS). ⺠She also has postaxial polydactyly which is not common for RSTS. ⺠Array-CGH showed copy number loss for 16p13.3. ⺠Sequence at the breakpoint junction showed the structure of a DNASE 1-CREBBP fusion gene. ⺠Report is the first on the sequence at the breakpoint of a microdeletion for this syndrome.
Keywords
EP300E1A binding protein P300Deoxyribonuclease INAHRMicrodeletionCREBBPOMIMCGHTRAP1qRT-PCRNHEJcomparative genomic hybridizationRubinstein–Taybi syndromenon-homologous end joiningNon-allelic homologous recombinationHistone acetyltransferasequantitative real time-polymerase chain reactionpolymerase chain reactionPCROnline Mendelian Inheritance in ManCREB binding proteinHAT
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Authors
Angeline H.M. Lai, Maggie S. Brett, Wai-Hoe Chin, Eileen C.P. Lim, Jasmine S.H. Ng, Ene-Choo Tan,