Article ID Journal Published Year Pages File Type
5904959 European Journal of Medical Genetics 2013 18 Pages PDF
Abstract
A 7 bp deletion in exon 1 of NKX2-1, resulting in a frame shift and creation of a premature termination codon, was identified in all affected individuals. Screening of 60 unrelated individuals with a diagnosis of dyskinetic or ataxic CP did not identify NKX2-1 mutations. BHC can be confused with ataxic and dyskinetic CP. Occasionally these children have a mutation in NKX2-1.
Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Genetics
Authors
, , , , , , , , ,