Dyspnea and situs inversus in a boy aged 3 days / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 633-638, 2021.
Artículo
en Chino
| 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
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Situs Inversus
/
China
/
Síndrome de Kartagener
/
Exones
/
Disnea
Límite:
Humanos
/
Masculino
/
Recién Nacido
País/Región como asunto:
Asia
Idioma:
Chino
Revista:
Chinese Journal of Contemporary Pediatrics
Año:
2021
Tipo del documento:
Artículo
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