换一批A novel stop codon variant affecting ΔNp63 isoforms associated with non-syndromic limb-mammary phenotype and uterine cervix dysplasia.
第一作者：
Laura,Guazzarotti
第一单位：
Department of Woman's and Child 's Health - Pediatric Endocrinology and Adolescence Unit, University Hospital of Padova, Padova, Italy.
作者：
医学主题词
等位基因(Alleles);乳房(Breast);密码子, 终止(Codon, Terminator);女(雌)性(Female);遗传变异(Genetic Variation);人类(Humans);遗传方式(Inheritance Patterns);肢畸形, 先天性(Limb Deformities, Congenital);系谱(Pedigree);表型(Phenotype);序列缺失(Sequence Deletion);转录因子(Transcription Factors);肿瘤抑制蛋白质类(Tumor Suppressor Proteins);宫颈非典型增生(Uterine Cervical Dysplasia)
DOI
10.1111/cge.13889
PMID
33258108
发布时间
2021-12-31
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Clinical genetics
486-487页
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