换一批Familial 14.5 Mb interstitial deletion 13q21.1-13q21.33: clinical and array-CGH study of a benign phenotype in a three-generation family.
第一作者：
Isabel,Filges
第一单位：
Division of Medical Genetics, Department of Biomedicine, University Children's Hospital, Basel, Switzerland. isabel.filges@ukbb.ch
作者：
医学主题词
儿童, 学龄前(Child, Preschool);染色体缺失(Chromosome Deletion);染色体障碍(Chromosome Disorders);染色体, 人, 13对(Chromosomes, Human, Pair 13);比较基因组杂交(Comparative Genomic Hybridization);家庭卫生(Family Health);基因剂量(Gene Dosage);人类(Humans);核型分析(Karyotyping);男(雄)性(Male);系谱(Pedigree);表型(Phenotype)
DOI
10.1002/ajmg.a.32622
PMID
19161139
发布时间
2020-09-30
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