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Recognizing genetic disease: A key aspect of pediatric pulmonary care.

Pediatric pulmonology - 1 Jul 2020

Yonker Lael M, Hawley Megan H, Moschovis Peter P, Lu Mengdi, Kinane T Bernard

Abstract excerpt

Advancement in technology has improved recognition of genetic etiologies of disease, which has impacted diagnosis and management of rare disease patients in the pediatric pulmonary clinic. This review provides an overview of genetic conditions that are likely to present with pulmonary features and require extensive care by the pediatric pulmonologist. Increased familiarity with these conditions allows for...

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PMID: 32533909
DOI: 10.1002/ppul.24706
PMCID: PMC7384240

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