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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....

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Main Authors: Jackson, Sha-Ron, Guner, Yigit S., Woo, Russell, Randolph, Linda M., Ford, Henri, Shin, Cathy E.
Formato: Artigo
Idioma:Inglês
Publicado: Springer-Verlag 2009
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2734257/
https://ncbi.nlm.nih.gov/pubmed/19641926
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00383-009-2420-0
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