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Article

Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review.

Cytogenetic and genome research - 1 Jan 2016

Ciaccio Claudia, Dordoni Chiara, Ritelli Marco, Colombi Marina

Abstract excerpt

Koolen-de Vries syndrome (KdS) is a rare genetic condition characterized by typical facial dysmorphisms, cardiac and renal defects, skeletal anomalies, developmental delay, and intellectual disability of variable level. It is caused by a 440-680-kb deletion in the 17q21.31 region, encompassing CRHR1, MAPT, IMP5, STH, and KANSL1, or by an intragenic KANSL1 mutation. The majority of the patients reported are...

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Share to Abnormalities, Multiple
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27852077
DOI: 10.1159/000452724

Genes

CRHR1
MAPT
STH

Provenance

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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