This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator.
Specific Aims : 1) Identify genetic variants in the TBX1gene, and test for associations between TBX1 polymorphisms and clinical phenotypes of VCFS/DGS patients. 2) Identify genetic variants in candidate genes in the 22q11 deletion interval and test for associations between candidate gene polymorphisms and clinical phenotypes of VCFS/DGS patients.
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