L1CAM mutation in association with X-linked hydrocephalus and Hirschsprung’s disease

X-linked hydrocephalus (XLH) is characterized by increased intracranial ventricle size and head circumference secondary to aqueduct of Sylvius congenital stenosis. Exceedingly rare is the concurrence of XLH and Hirschsprung’s disease (HSCR) with a theoretical incidence of 1 in 125–250 million cases....

Descripción completa

Detalles Bibliográficos
Autores principales: Jackson, Sha-Ron, Guner, Yigit S., Woo, Russell, Randolph, Linda M., Ford, Henri, Shin, Cathy E.
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2009
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2734257/
https://www.ncbi.nlm.nih.gov/pubmed/19641926
http://dx.doi.org/10.1007/s00383-009-2420-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2734257/
https://www.ncbi.nlm.nih.gov/pubmed/19641926
http://dx.doi.org/10.1007/s00383-009-2420-0

Ejemplares similares