Paternal gender specificity and mild phenotypes in Charcot-Marie-Tooth type 1A patients with de novo 17p12 rearrangements.

Ah J LeeDa E NamYu J ChoiSeung W NohSoo H NamHye J LeeSeung J KimGyun J SongByung-Ok ChoiKi Wha Chung

Published in: Molecular genetics & genomic medicine (2020)

This study suggests that de novo CMT1A patients tend to have milder symptoms and that the paternal ages at child births in the de novo group are higher than those of the non-de novo group.

Keyphrases

end stage renal disease
mental health
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
peritoneal dialysis
patient reported outcomes
depressive symptoms
sleep quality