1.
Chinese Journal of Contemporary Pediatrics
;
(12): 633-638, 2021.
Article
in Chinese
| WPRIM
| ID: wpr-879905
ABSTRACT
A boy was admitted on day 3 after birth due to shortness of breath for 2 days and cyanosis for 1 day. He had clinical manifestations of dyspnea in the early postnatal period and situs inversus, and was finally diagnosed with Kartagener syndrome. His condition was improved after oxygen therapy, anti-infective therapy, and aerosol therapy. The genetic testing showed that there was a large-fragment loss of heterozygosity, exon 48_50, and a hemizygous mutation, c.7915C > T(p.R2639X), in the
Subject(s)
Humans , Infant, Newborn , Male , China , Dyspnea , Exons , Kartagener Syndrome/therapy , Situs Inversus/genetics
2.
Indian Heart J
;
1972 Jul; 24(3): 300-4
Article
in English
| IMSEAR
| ID: sea-3793