CHRND variant in a paternally inherited esophageal atresia and tracheoesophgageal fistula: Report of a case.

Tutku SoyerÖzlem BoybeyiBeren KaraosmanoğluEkim TaşkıranÖzlem Pelin ŞimşekGülen Eda Utine

Published in: Birth defects research (2023)

CHRND variant found in both EA-TEF patient and his affected father suggest that CHRND variant might possibly be considered as one of the causative genetic variants in familial isolated EA-TEF patients.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
prognostic factors
patient reported outcomes