https://nova.newcastle.edu.au/vital/access/ /manager/Index en-au 5 https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:48449 STK11 gene, with the mutant allele expressed in her gametes, evident by her affected offspring, and in her gastrointestinal tract demonstrated on an excised polyp analysed for diagnosis. Mosaicism for Peutz-Jeghers syndrome (PJS) has been reported in a small number of cases previously but a clinical presentation such as this has not previously been described. This finding of mosaicism was several years after initial investigations failed to identify the same STK11 mutation in this woman whose son was diagnosed with PJS at a young age. This case highlights the importance of considering mosaicism as an explanation for apparent de novo cases of PJS syndrome. It also has implications for genetic counselling, predictive testing and cancer screening.]]> Thu 16 Mar 2023 18:15:38 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:1509 Sat 24 Mar 2018 08:30:53 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:1578 Sat 24 Mar 2018 08:30:30 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:23712 Sat 24 Mar 2018 07:13:25 AEDT ]]>