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Article

Koolen-de Vries syndrome in the first adulthood patient of Southern India ancestry.

American journal of medical genetics. Part A - 1 Mar 2021

Pascolini Giulia, Gaudioso Federica, Fadda Maria Teresa, Laino Luigi, Ferraris Alessandro, Grammatico Paola

Abstract excerpt

Koolen-de Vries syndrome (KdVS, MIM#610443) is a rare malformation condition mainly characterized by cognitive impairment in association with craniofacial and visceral anomalies. The core phenotype is caused by mutations in the chromatin remodeler KANSL1 (MSL1V1, KIAA1267, KAT8 Regulatory NSL Complex Subunit 1, MIM#612452), which maps to 17q21.31 critical genomic region (Koolen et al., Nature Genetics...

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PMID: 33314579
DOI: 10.1002/ajmg.a.62006

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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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