Haddad syndrome novel association with BRAF mutation.
J Neonatal Perinatal Med
; 10(4): 455-457, 2017.
Article
em En
| MEDLINE
| ID: mdl-29286936
ABSTRACT
This is a report of a 36 week male infant who suffered abdominal distension and difficulty opening bowels within first few days of life and showed a pattern of hypoventilation and apnea associated with sleep. His diagnostic studies confirmed the diagnosis of congenital central hypoventilation syndrome CCHS (PHOX2B mutation) and Hirschsprung's disease and later found a further mutation of BRAF oncogene. This describes a novel association between these mutations and the shared qualities of tumorigenesis between BRAF and PHOX2B.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Fatores de Transcrição
/
Proteínas de Homeodomínio
/
Apneia do Sono Tipo Central
/
Proteínas Proto-Oncogênicas B-raf
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Hipoventilação
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article