Clinical utility gene card for: Deletion 22q13 syndrome
Open Access
- 8 December 2010
- journal article
- Published by Springer Science and Business Media LLC in European Journal of Human Genetics
- Vol. 19 (4), 492
- https://doi.org/10.1038/ejhg.2010.193
Abstract
No abstract availableKeywords
This publication has 11 references indexed in Scilit:
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- 22q13.3 deletion syndrome: A recognizable malformation syndrome associated with marked speech and language delayAmerican Journal Of Medical Genetics Part C-Seminars In Medical Genetics, 2007
- Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disordersNature Genetics, 2006
- Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndromeJournal of Medical Genetics, 2006
- Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observationsJournal of Medical Genetics, 2003
- Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptomsJournal of Medical Genetics, 2003
- Disruption of the ProSAP2 Gene in a t(12;22)(q24.1;q13.3) Is Associated with the 22q13.3 Deletion SyndromeAmerican Journal of Human Genetics, 2001