关键词: IFT139 TTC21B cilia ciliopathy heterotaxy
Mesh : Abnormalities, Multiple / genetics pathology Cerebellum / abnormalities pathology Child Ciliary Motility Disorders / complications genetics pathology Eye Abnormalities / complications genetics pathology Genetic Predisposition to Disease Glomerulosclerosis, Focal Segmental / complications genetics pathology Heterotaxy Syndrome / complications genetics pathology Humans Kidney / metabolism pathology Kidney Diseases, Cystic / complications congenital genetics pathology Kidney Transplantation Male Microtubule-Associated Proteins / genetics Retina / abnormalities pathology Whole Exome Sequencing
来 源:
DOI:10.1002/ajmg.a.62093
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