关键词: 8q23.3–q24.22 deletion BAC CDLS4 CT Cornelia de Lange syndrome-4 EDS EXT1 Ehlers–Danlos syndrome FISH LGS Langer–Giedion syndrome NCBI National Center for Biotechnology Information OMIM Online Mendelian Inheritance in Man QF-PCR RAD21 TRPS TRPS1 Trichorhinophalangeal syndrome aCGH array comparative genomic hybridization bacterial artificial chromosome computed tomography del deletion fluorescence in situ hybridization quantitative fluorescent polymerase chain reaction trichorhinophalangeal syndrome
Mesh : Cell Cycle Proteins Chromosome Deletion Chromosomes, Human, Pair 8 / genetics Comparative Genomic Hybridization DNA-Binding Proteins / genetics De Lange Syndrome / genetics Epilepsy / genetics Genetic Association Studies Humans KCNQ3 Potassium Channel / genetics Langer-Giedion Syndrome / genetics Male N-Acetylglucosaminyltransferases / genetics Nuclear Proteins / genetics Phosphoproteins / genetics Repressor Proteins Transcription Factors / genetics Young Adult
来 源:
DOI:10.1016/j.gene.2013.07.045
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