Monogenic diseases in respiratory medicine: Clinical perspectives.
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ABSTRACT:
SUBMITTER: Yao Y
PROVIDER: S-EPMC7331330 | biostudies-literature | 2017 Dec
REPOSITORIES: biostudies-literature
Publications
Monogenic diseases in respiratory medicine: Clinical perspectives.
Pediatric investigation 20171227 1
With the increasing awareness of genetics in respiratory medicine and improvements in molecular diagnostic techniques, many complicated and rare diseases in respiratory medicine can be diagnosed. Most respiratory diseases have no specific phenotype. However, the clinical spectrum of monogenic diseases in respiratory medicine varies, from pulmonary disease to other inherited disorders that involve the lung. The genes that mediate some of these diseases have been identified. Certain monogenic dise ...[more]
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