Correction to: A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene.

Paolo CavarzereAndrea GastaldiFrancesca Marta ElliRossella GaudinoErika PeverelliMilena BrugnaraSusanne ThieleFrancesca GranataGiovanna MantovaniFranco Antoniazzi

Published in: Orphanet journal of rare diseases (2022)

Keyphrases

early onset
intellectual disability
copy number
genome wide
genome wide identification
dna methylation
autism spectrum disorder