L Siderius

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RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases D Taruscio, C Morciano, P Laricchiuta, P Mincarone, F Palazzo, CG Leo, S Sabina, R Guarino, J Auld, T Sejersen, D Gavhed, K Ritchie, M Hilton-Boon, J Manson, PG Kanavos, D Tordrup, V Tzouma, Y Le Cam, J Senecat, G Filippini, S Minozzi, C Del Giovane, H Schünemann,(More)
Hirschsprung disease (HSCR) is a congenital disorder characterised by intestinal obstruction due to an absence of intramural ganglia along variable lengths of the intestine. RET is the major gene involved in HSCR. Mutations in the GDNF gene, and encoding one of the RET ligands, either alone or in combination with RET mutations, can also cause HSCR, as can(More)
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