Title: Recognizing genetic disease: A key aspect of pediatric pulmonary care.
Authors: Yonker, Lael M; Hawley, Megan H; Moschovis, Peter P; Lu, Mengdi; Kinane, T Bernard
Published In Pediatr Pulmonol, (2020 07)
Abstract: 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 improved care of these patients by reducing time to diagnosis, tailoring management, and prompting further investigation into these disorders.
PubMed ID: 32533909
MeSH Terms: No MeSH terms associated with this publication