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Article

Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.

Journal of medical genetics - 1 Feb 2022

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, Graziano Claudio, Zollino Marcella

Abstract excerpt

BACKGROUND: Koolen-de Vries syndrome (KdVS) is a multisystem neurodevelopmental disorder caused by 17q21.31 deletions or mutations in KANSL1. It was mainly described in children. METHODS: A retrospective study on 9 subjects aged 19-45 years and revision of 18 literature patients, with the purpose to get insights into the phenotypic evolution with time, and into the clinical manifestations in adulthood. RESULTS:...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 33361104
DOI: 10.1136/jmedgenet-2020-107225

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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