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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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| Autori principali: | , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Springer-Verlag
2009
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| Soggetti: | |
| Accesso online: | 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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