换一批Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy.
第一作者：
Annalisa,Passariello
第一单位：
Department of Medical Translational Sciences, University of Naples "Federico II", Naples, Italy; Neonatology Unit, AORN dei Colli - V. Monaldi Hospital, Naples, Italy. Electronic address: annalisa.passariello@unina.it.
作者：
关键词
(123)MIBG11q syndrome123-iodine metaidobenzoguadinyl scintigrafyARSH, ARSE, ARSDCNVsCRDCN1DCUN1D5DECIPHERDGVECARUCAEuropean cytogeneticists association register of unbalanced chromosome aberrationsFISHGYG2INSSInternational NB Staging SystemMCA/MRMLPAMMP13MMPsMYCNNBNeuroblastomaOncogenePAR1SLEaCGHarilsulphatases genesarray comparative genomic hybridizationcritical regiondatabase of chromosomal imbalance and phenotype in humans using ensembl resourcesdatabase of genomic variantsdefective in cullin neddylation 1domain containing 5fluorescence in situ hybridizationglycogenin 2 genematrix metalloproteinase 13matrix metalloproteinase genesmultiple congenital anomaly/mental retardationmultiplex ligation-dependent probe amplificationneuroblastomapseudo autosomal region 1structural copy number variationssystemic lupus erythematosus
医学主题词
畸形, 多发性(Abnormalities, Multiple);脑肿瘤(Brain Neoplasms);染色体缺失(Chromosome Deletion);染色体, 人, 11对(Chromosomes, Human, Pair 11);颅缝早闭(Craniosynostoses);女(雌)性(Female);基因剂量(Gene Dosage);生殖细胞系突变(Germ-Line Mutation);人类(Humans);婴儿(Infant);神经母细胞瘤(Neuroblastoma);核蛋白质类(Nuclear Proteins);癌基因蛋白质类(Oncogene Proteins);综合征(Syndrome)
DOI
10.1016/j.ejmg.2013.08.005
PMID
24035971
发布时间
2021-05-03
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