Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4.

Gerarda CappuccioRaffaella Brunetti-PierriAnnalaura TorellaMichele PinelliRaffaele CastelloGiorgio CasariVincenzo NigroSandro BanfiFrancesca Simonellinull nullNicola Brunetti-Pierri

Published in: Molecular genetics & genomic medicine (2019)

This case expands the phenotypic spectrum of CSS manifestations.

Keyphrases

optical coherence tomography
diabetic retinopathy
intellectual disability
early onset
optic nerve
autism spectrum disorder