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1.5 Mb deletion of chromosome 4p16.3 associated with postnatal growth delay,psychomotor impairment,epilepsy, impulsive behavior and asynchronous skeletal development |
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| Authors: | D Misceo T Barøy JR Helle Ø Braaten M Fannemel E Frengen |
| Institution: | 1. Department of Medical Genetics, Oslo University Hospital, Norway;2. University of Oslo, Norway |
| Abstract: | Several Wolf-Hirschhorn syndrome patients have been studied, mouse models for a few candidate genes have been constructed and two WHS critical regions have been postulated, but the molecular basis of the syndrome remains poorly understood. |
| Keywords: | aCGH Array comparative genomic hybridization CNV Copy Number Variation CPLX Complexin-1 CTBP1 C-terminal binding protein 1 DCE difficult to control epilepsy DGKQ Diacylglycerol kinase theta EEG Electroencephalography FGFRL1 fibroblast growth factor receptor-like 1 hg19 human genome 19 IUGR intra uterine growth restriction LETM1 leucine zipper-EF-hand containing transmembrane qPCR Real Time Quantitative PCR WHS Wolf-Hirschhorn syndrome WHSCRI and II Wolf-Hirschhorn syndrome critical regions I and II |
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