A novel pathogenic splice site variation in STK11 gene results in Peutz –Jeghers syndrome

ConclusionWe identified a novel heterozygous mutation (c.921-2 A>C) in theSTK11 in a Chinese PJS family. Haploinsufficiency of STK11 might contribute to the pathogenesis of the disease.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research