Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndrome

Hızarcıoğlu-Gülşen, Hayriye; Kılıç, Esra; Domínguez‐Garrido, Elena; Aydemir, Yusuf; Ütine, Gülen Eda; Saltık-Temizel, İnci Nur

doi:10.24953/turkjped.2017.01.014

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Genotype-phenotype Correlations and Modifiers Of Cancer Risks1

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“…These findings help explain the occurrence of neurodevelopmental disorders such as megalencephaly, autism spectrum disorder (ASD), and developmental delay in individuals with PHTS (70-72). Importantly, germline PTEN mutations have been reported in previously undiagnosed individuals with isolated PHTS-related phenotypes, indicating that the syndrome is indeed underdiagnosed (71,(73)(74)(75)(76)(77)(78)(79). Certainly, utilizing knowledge about PHTS pathogenesis aids in establishing a molecular diagnosis, itself critical both for understanding phenotype correlations.…”

Section: Genotype-phenotype Correlations and Modifiers Of Cancer Risksmentioning

confidence: 99%