受肾表型 VATER / VACTERL 影响的个体的外显子组调查鉴定了表型和新的候选基因。
关键词: VATER/VACTERL association anorectal malformation (ARM) congenital anomalies of the kidneys and urinary tract (CAKUT) exome sequencing (WES) monogenic disease causation
Mesh : Anorectal Malformations / complications genetics pathology Cytoskeletal Proteins / genetics DNA-Binding Proteins / genetics Esophageal Atresia / complications genetics pathology Female Genes, X-Linked / genetics Genetic Association Studies Genetic Predisposition to Disease HSP90 Heat-Shock Proteins / genetics Heart Diseases / complications genetics pathology Hemizygote Homeodomain Proteins / genetics Humans Kidney / abnormalities Male Receptors, Interleukin / genetics Tracheoesophageal Fistula / complications genetics pathology Transcription Factors / genetics Whole Exome Sequencing
来 源:
DOI:10.1002/ajmg.a.62447
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