ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability.

Martina SkopkovaHana StufkovaVibhuti RambaniViktor StraneckyKatarina BrennerovaMiriam KolnikovaMichaela PietrzykovaMiloslav KarhanekLenka NoskovaMarketa TesarovaHana HansikovaDaniela Gasperikova

Published in: Orphanet journal of rare diseases (2023)

The clinical picture and severity of ATAD3A-related disorders are homogenous in patients sharing the same combinations of variants. This knowledge enables deduction of variant impact severity based on known cases and allows more accurate prognosis estimation, as well as a better understanding of the ATAD3A function.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
prognostic factors
healthcare
peritoneal dialysis
social media
mass spectrometry
patient reported outcomes
genome wide
dna methylation
high resolution