Heterozygous p.S811F RET gene mutation associated with renal agenesis, oligomeganephronia and total colonic aganglionosis: a case report

BACKGROUND: Several shared common gene networks participate in development of interstinal ganglia and also nephron formation; the glial cell line-derived neurotrophic factor/Ret/glial cell line-derived neurotrophic factor receptor gene network is particularly important. CASE PRESENTATION: We encount...

Descripción completa

Detalles Bibliográficos
Autores principales: Sugimoto, Keisuke, Miyazawa, Tomoki, Nishi, Hitomi, Miyazaki, Kohei, Enya, Takuji, Okada, Mitsuru, Takemura, Tsukasa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5055680/
https://www.ncbi.nlm.nih.gov/pubmed/27717313
http://dx.doi.org/10.1186/s12882-016-0354-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5055680/
https://www.ncbi.nlm.nih.gov/pubmed/27717313
http://dx.doi.org/10.1186/s12882-016-0354-z

Ejemplares similares