Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencing.
Am J Med Genet A
; 179(5): 842-845, 2019 05.
Article
en En
| MEDLINE
| ID: mdl-30828993
ABSTRACT
We describe a neonate with severe respiratory failure due to acinar dysplasia found by rapid exome sequencing (rES), to have a deletion containing the TBX4 gene. rES can affect patient management in the intensive care unit and should be considered in concert with lung biopsy in neonates with undifferentiated respiratory failure.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Eliminación de Secuencia
/
Proteínas de Dominio T Box
/
Células Acinares
/
Exoma
/
Secuenciación del Exoma
/
Enfermedades Pulmonares
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2019
Tipo del documento:
Article