Ontology highlight
ABSTRACT:
SUBMITTER: Fernandez RM
PROVIDER: S-EPMC3879038 | biostudies-literature | 2013 Dec
REPOSITORIES: biostudies-literature
Fernández Raquel M RM Bleda Marta M Luzón-Toro Berta B García-Alonso Luz L Arnold Stacey S Sribudiani Yunia Y Besmond Claude C Lantieri Francesca F Doan Betty B Ceccherini Isabella I Lyonnet Stanislas S Hofstra Robert Mw RM Chakravarti Aravinda A Antiñolo Guillermo G Dopazo Joaquín J Borrego Salud S
Orphanet journal of rare diseases 20131202
Despite it has been reported that several loci are involved in Hirschsprung's disease, the molecular basis of the disease remains yet essentially unknown. The study of collective properties of modules of functionally-related genes provides an efficient and sensitive statistical framework that can overcome sample size limitations in the study of rare diseases. Here, we present the extension of a previous study of a Spanish series of HSCR trios to an international cohort of 162 HSCR trios to valid ...[more]