Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center.

Herminia Argente-EscrigMarina FrasquetJuan Francisco Vázquez-CostaElvira Millet-SanchoInmaculada PitarchMiguel Tomás-VilaCarmen EspinósVincenzo LupoTeresa Sevilla

Published in: Annals of clinical and translational neurology (2021)

This study highlights the unique spectrum of IPN gene frequencies among pediatric patients in this specific geographic region, identifying the CMTPedS as a sensitive tool to detect significant disease worsening over 1 year that could help optimize the design of clinical trials.

Keyphrases

clinical trial
primary care
copy number
randomized controlled trial
gene expression
phase ii
childhood cancer