换一批Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation.
第一作者：
Matthew G,Butler
第一单位：
Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan 48109-5618, USA. butlerm4@mail.nih.gov
作者：
医学主题词
衔接蛋白质类, 信号转导(Adaptor Proteins, Signal Transducing);儿童(Child);染色体图(Chromosome Mapping);染色体, 人, 16对(Chromosomes, Human, Pair 16);DNA拷贝数变异(DNA Copy Number Variations);睫毛(Eyelashes);女(雌)性(Female);叉头转录因子类(Forkhead Transcription Factors);基因缺失(Gene Deletion);基因型(Genotype);血管球瘤(Glomus Tumor);人类(Humans);淋巴水肿(Lymphedema);磁共振成像(Magnetic Resonance Imaging);小头畸形(Microcephaly);副神经节瘤, 肾上腺外(Paraganglioma, Extra-Adrenal);受体, TIE-2(Receptor, TIE-2);膀胱输尿管返流(Vesico-Ureteral Reflux)
DOI
10.1002/ajmg.a.35229
PMID
22407726
发布时间
2025-05-29
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