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16th Annual World Congress on Pediatrics

New York, USA

Dr Usha Kini


Dr Usha Kini

Oxford University Hospitals, Oxford, UK

Biography

Dr Kini is a Consultant Clinical Geneticist working at the Oxford Centre for Genomic Medicine in Oxford, UK. She also holds the position of Honorary Senior Clinical Lecturer in Clinical Genetics at the University of Oxford. Her research interest is in the genetics of  birth defects such as congenital brain anomalies and orofacial clefting. She is the Chief investigator of the Genetics of Structural Brain abnormalities and learning disabilities study and is also the Clinical lead of the Oxford Brain Abnormlaties research group. Her group has successfully described several novel genes implicated in causing congenital brain anomalies.

Abstract

Abstract : GPI- Anchor pathway defects: implications for neurodevelopmental morbidity, congenital disorder of glycosylation, Mabry syndrome and Fryns syndrome