换一批
换一批Transposition of the great vessels in a patient with a 2.9 Mb interstitial deletion of 9q31.1 encompassing the inversin gene: clinical report and review.
第一作者：
Bregje W M,van Bon
第一单位：
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
作者：
主题词
儿童, 学龄前(Child, Preschool);染色体缺失(Chromosome Deletion);染色体, 人, 9对(Chromosomes, Human, Pair 9);颅面骨畸形(Craniofacial Abnormalities);女(雌)性(Female);人类(Humans);表型(Phenotype);转录因子(Transcription Factors);大血管错位(Transposition of Great Vessels)
DOI
10.1002/ajmg.a.32289
PMID
18386802
发布时间
2020-09-30
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