换一批
换一批2p16.3 microdeletion with partial deletion of the neurexin-1 gene in a female with developmental delays, short stature, and a congenital diaphragmatic hernia.
作者：
主题词
畸形, 多发性(Abnormalities, Multiple);身高(Body Height);钙结合蛋白质类(Calcium-Binding Proteins);细胞黏附分子, 神经元(Cell Adhesion Molecules, Neuronal);儿童(Child);染色体缺失(Chromosome Deletion);染色体, 人, 2对(Chromosomes, Human, Pair 2);比较基因组杂交(Comparative Genomic Hybridization);发育障碍(Developmental Disabilities);女(雌)性(Female);基因缺失(Gene Deletion);疝, 横膈(Hernia, Diaphragmatic);人类(Humans);神经组织蛋白质类(Nerve Tissue Proteins);神经细胞黏附分子类(Neural Cell Adhesion Molecules)
DOI
10.1097/MCD.0b013e32835b8df2
PMID
23207424
发布时间
2020-12-09
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