Novel MNX1 mutations and clinical analysis of familial and sporadic Currarino cases
Authors:
- Elisa MerelloEMElisa Merello
- Patrizia De MarcoPMPatrizia De Marco
- Marcello RavegnaniMRMarcello Ravegnani
- Giovanna RiccipetitoniGRGiovanna Riccipetitoni
- Armando CamaACArmando Cama
- Valeria CapraVCValeria Capra
- 1 December 2013
- journal article
- Published by Elsevier in European Journal of Medical Genetics
- Vol. 56 (12) , 648-654
Abstract
No abstract availableKeywords
Funding Information
- Italian Ricerca Corrente 2011
This publication has 43 references indexed in Scilit:
- Mutation analysis of the motor neuron and pancreas homeobox 1 (MNX1, former HLXB9) gene in Swedish patients with Currarino syndromeJournal of Pediatric Surgery, 2011
- Presacral masses in children: presentation, aetiology and risk of malignancyColorectal Disease, 2010
- Epigenetics: Connecting Environment and Genotype to Phenotype and DiseaseJournal of Dental Research, 2009
- Human Splicing Finder: an online bioinformatics tool to predict splicing signalsNucleic Acids Research, 2009
- Anorectal malformationsOrphanet Journal of Rare Diseases, 2007
- New clinical and therapeutic perspectives in Currarino syndrome (study of 29 cases)Journal of Pediatric Surgery, 2006
- The Currarino triad: the variable expressionJournal of Pediatric Surgery, 2005
- Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamicsNature Reviews Molecular Cell Biology, 2004
- Triad of anorectal stenosis, sacral anomaly and presacral mass: A remediable cause of severe constipationBritish Journal of Surgery, 1990
- Anterior sacral defects: An autosomal dominantly inherited conditionThe Journal of Pediatrics, 1983