Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability
Open Access
- 22 May 2013
- journal article
- Published by Springer Science and Business Media LLC in European Journal of Human Genetics
- Vol. 22 (1), 52-56
- https://doi.org/10.1038/ejhg.2013.98
Abstract
No abstract availableKeywords
This publication has 18 references indexed in Scilit:
- EFTUD2haploinsufficiency leads to syndromic oesophageal atresiaJournal of Medical Genetics, 2012
- Methylation-Dependent Activation of CDX1 through NF-κBThe American Journal of Pathology, 2012
- Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with MicrocephalyAmerican Journal of Human Genetics, 2012
- Gross deletions in TCOF1 are a cause of Treacher–Collins–Franceschetti syndromeEuropean Journal of Human Genetics, 2012
- First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins SyndromeMolecular Syndromology, 2011
- Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndromeNature Genetics, 2010
- Tcof1 /Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalitiesProceedings of the National Academy of Sciences of the United States of America, 2006
- Molecular cloning and initial characterization of three novel human sulfatasesGene, 2006
- Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationshipHuman Molecular Genetics, 2005
- Inhibitory Autophosphorylation of CaMKII Controls PSD Association, Plasticity, and LearningNeuron, 2002