Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome - Amenta, Simona; Frangella, Silvia; Marangi, Giuseppe; Lattante, Serena; Ricciardi, Stefania; Doronzio, Paolo Niccolò; Orteschi, Daniela; Veredice, Chiara; Contaldo, Ilaria; Zampino, Giuseppe; Gentile, Mattia; Scarano, Emanuela; et al. (Journal of medical genetics, 2022)
Keywords: Abnormalities, Multiple - genetics; Abnormalities, Multiple - pathology; Adult; Adults; Age; Autonomy; Birth defects; Body mass index; Body weight; Chromosome Deletion; Chromosomes, Human, Pair 17 - genetics; Convulsions & seizures; Developmental defects; Epilepsy; Evolution & development; Failure to thrive; Female; Gene deletion; genetics; genotype; Genotype & phenotype; Haploinsufficiency; Humans; Intellectual disabilities; Intellectual Disability - genetics; Intellectual Disability - pathology; Language; Male; Middle Aged; Mutation; Neurodevelopmental disorders; Nuclear Proteins - genetics; Obesity; Overweight; Patients; Phenotype; Phenotypes; Point mutation; Prognosis; Puberty; Remission; Retrospective Studies; Scoliosis; Seizures; Semiotics; Social behavior; Young Adult; Italy; epilepsy; phenotype; genetics; genotype