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Pathogenic genes and corresponding ciliary defects associated with primary ciliary dyskinesia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 433-437, 2022.
Article in Chinese | WPRIM | ID: wpr-928436
ABSTRACT
Primary ciliary dyskinesia (PCD) is a recessive genetic disorder of motile cilia with substantial genetic and phenotypic heterogeneity. Clinical features of PCD vary from one patient to another, and no single test has the sensitivity and specificity to accurately diagnose PCD. Genetic testing combined with other auxiliary tests can facilitate the confirmatory diagnosis of PCD. So far more than 40 genes have been associated with PCD, but most research have focused on common genes, which hinders our understanding of other rare PCD-genes. This review has summarized the PCD-associated genes and the corresponding characteristics of dysfunctional cilia, with an aim to provide a basis for early identification of such diseases.
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Genetic Testing / Kartagener Syndrome / Sensitivity and Specificity / Cilia Type of study: Diagnostic study / Prognostic study Limits: Humans Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2022 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Genetic Testing / Kartagener Syndrome / Sensitivity and Specificity / Cilia Type of study: Diagnostic study / Prognostic study Limits: Humans Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2022 Type: Article