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Article

Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype.

American journal of medical genetics. Part A - 1 Feb 2022

Farnè Marianna, Bernardini Laura, Capalbo Anna, Cavarretta Giusy, Torres Barbara, Sanchini Mariabeatrice, Fini Sergio, Ferlini Alessandra, Bigoni Stefania

Abstract excerpt

Koolen-de Vries syndrome (KdVS) is a rare genetic disorder caused by a de novo microdeletion in chromosomal region 17q21.31 encompassing KANSL1 or by a de novo intragenic pathogenic variant of KANSL1. KdVS is typically characterized by intellectual disability (ID), variable from mild to severe, developmental psychomotor delay, especially of expressive language development, friendly disposition, and multiple...

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

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Identifiers

PMID: 34665525
DOI: 10.1002/ajmg.a.62536
PMCID: PMC9297928

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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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