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Article

Koolen-de Vries syndrome: A de novo missense KANSL1 variant.

Clinical neurology and neurosurgery - 1 Nov 2022

Yimenicioglu S, Kocaaga A

Abstract excerpt

BACKGROUND: Koolen-de Vries syndrome is a rare genetic disorder marked by developmental and speech delays, intellectual disability, hypotonia, seizures, multiple congenital anomalies, and dysmorphic facial features. This syndrome is caused by microdeletions or loss-of-function mutations in the KANSL1 gene. KANSL1 encodes a nuclear protein that, via histone modification, regulates global transcription. CASE: The...

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PMID: 36150256
DOI: 10.1016/j.clineuro.2022.107444

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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