[Genes and genetics in Hirschsprung's disease]. / Genen en genetica bij de ziekte van Hirschsprung.
Ned Tijdschr Geneeskd
; 143(26): 1352-6, 1999 Jun 26.
Article
en Nl
| MEDLINE
| ID: mdl-10416491
ABSTRACT
Hirschsprung's disease (HSCR) is a congenital disorder characterized by intestinal obstruction due to the absence of intramural ganglia along variable lengths of the colon. Occurrence among family members and recurrence risks among siblings are indications for involvement of genetic predispositions. Mutations have been discovered in five different susceptibility genes. One of the most important findings is the detection of specific mutations in the so-called RET gene, which can also be responsible for the multiple endocrine neoplasia type 2A (MEN2A) syndrome. HSCR patients with such specific mutations run an increased risk of developing MEN type 2A related tumours.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Proteínas Proto-Oncogénicas
/
Proteínas Tirosina Quinasas Receptoras
/
Proteínas de Drosophila
/
Enfermedad de Hirschsprung
Tipo de estudio:
Etiology_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Female
/
Humans
/
Male
Idioma:
Nl
Revista:
Ned Tijdschr Geneeskd
Año:
1999
Tipo del documento:
Article