Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.
第一作者:
Paweł,Stankiewicz
第一单位:
Dept of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. pawels@bcm.edu
作者:
医学主题词
畸形, 多发性(Abnormalities, Multiple);支气管肺发育不良(Bronchopulmonary Dysplasia);毛细血管(Capillaries);儿童, 学龄前(Child, Preschool);染色体图(Chromosome Mapping);染色体, 人, 16对(Chromosomes, Human, Pair 16);多柔比星(Doxorubicin);女(雌)性(Female);叉头转录因子类(Forkhead Transcription Factors);基因缺失(Gene Deletion);基因沉默(Gene Silencing);人类(Humans);原位杂交, 荧光(In Situ Hybridization, Fluorescence);婴儿(Infant);婴儿, 新生(Infant, Newborn);男(雄)性(Male);突变(Mutation);肺泡(Pulmonary Alveoli);肺静脉(Pulmonary Veins)
DOI
10.1016/j.ajhg.2009.05.005
PMID
19500772
发布时间
2021-10-28
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