1.
Chinese Journal of Contemporary Pediatrics
; (12): 633-638, 2021.
Article
de Chinois
| WPRIM
| ID: wpr-879905
RÉSUMÉ
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
Sujet(s)
Humains , Nouveau-né , Mâle , Chine , Dyspnée , Exons , Syndrome de Kartagener/thérapie , Situs inversus/génétique
2.
Indian Heart J
; 1972 Jul; 24(3): 300-4
Article
de Anglais
| IMSEAR
| ID: sea-3793