换一批
换一批Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity—ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas.
作者：
主题词
氨基酸取代(Amino Acid Substitution);主动脉缩窄(Aortic Coarctation);活组织检查(Biopsy);儿童, 学龄前(Child, Preschool);DNA突变分析(DNA Mutational Analysis);面容(Facies);女(雌)性(Female);移码突变(Frameshift Mutation);基因, 隐性(Genes, Recessive);遗传关联研究(Genetic Association Studies);错构瘤(Hamartoma);杂合子(Heterozygote);人类(Humans);婴儿(Infant);系谱(Pedigree);表型(Phenotype);RNA剪接位点(RNA Splice Sites);放射摄影术(Radiography);并指(趾)(Syndactyly);舌肿瘤(Tongue Neoplasms)
DOI
10.1002/ajmg.a.36852
PMID
25427950
发布时间
2020-09-30
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