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Article

KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.

BMC medical genetics - 22 Aug 2015

Moreno-Igoa María, Hernández-Charro Blanca, Bengoa-Alonso Amaya, Pérez-Juana-del-Casal Aranzazu, Romero-Ibarra Carlos, Nieva-Echebarria Beatriz, Ramos-Arroyo María Antonia

Abstract excerpt

BACKGROUND: Chromosome 17q21.31 microdeletion syndrome is a multisystem genomic disorder caused by a recurrent 600-kb-long deletion, or haploinsufficiency of the chromatin modifier gene KANSL1, which maps to that region. Patients with KANSL1 intragenic mutations have been reported to display the major clinical features of 17q21.31 microdeletion syndrome. However, they did not exhibit the full clinical spectrum of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26293599
DOI: 10.1186/s12881-015-0211-0
PMCID: PMC4593202

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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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