换一批Mosaic deletion 11p13 in a child with dopamine beta-hydroxylase deficiency--case report and review of the literature.
第一作者：
A,Erez
第一单位：
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
作者：
医学主题词
畸形, 多发性(Abnormalities, Multiple);青少年(Adolescent);染色体缺失(Chromosome Deletion);染色体, 人, 11对(Chromosomes, Human, Pair 11);眼缺损(Coloboma);比较基因组杂交(Comparative Genomic Hybridization);多巴胺β羟化酶(Dopamine beta-Hydroxylase);眼蛋白质类(Eye Proteins);女(雌)性(Female);基因剂量(Gene Dosage);基因, 肾母细胞瘤(Genes, Wilms Tumor);同源盒结构域蛋白质类(Homeodomain Proteins);人类(Humans);低血压, 直立性(Hypotension, Orthostatic);原位杂交, 荧光(In Situ Hybridization, Fluorescence);镶嵌现象(Mosaicism);成对盒转录因子类(Paired Box Transcription Factors);阻遏蛋白质类(Repressor Proteins)
DOI
10.1002/ajmg.a.33269
PMID
20186791
发布时间
2020-09-30
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