From pollakiuria to Donnai-Barrow syndrome diagnosis in pediatric age.

Michela M GrittiLuca PecoraroMonica CeolAngelo PietrobelliGiorgio PiacentiniFranca AnglaniMilena Brugnara

Published in: Clinical genetics (2023)

We report the case of two siblings with incomplete Donnai-Barrow syndrome (DBS) phenotype carrying three LRP2 variants never associated before with DBS phenotype.

Keyphrases

deep brain stimulation
case report
copy number
gene expression
autism spectrum disorder