A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report.

Cristina GrippaudoConcetta CafieroIsabella D'ApolitoAgnese ReMaurizio GenuardiPietro ChiurazziSylvia A Frazier-Bowers

Published in: BMC oral health (2019)

In this study, we report a new PTH1R variant that segregates in an autosomal dominant pattern and causes PFE with incomplete penetrance. This underlines the diagnostic value of a thorough clinical and genetic analysis of all family members in order to estimate accurate recurrence risks, identify subtle clinical manifestations and provide proper management of PFE patients.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
peritoneal dialysis
high resolution
genome wide
gene expression
copy number