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Article

Two distinct phenotypes in Snijders Blok-Campeau syndrome and characterization of the behavioral phenotype in a zebrafish model.

European journal of human genetics : EJHG - 1 Jun 2025

Enomoto Yumi, Shiromizu Takashi, Yasojima Sakyo, Koiwa Junko, Kuroda Yukiko, Ito Hiroaki, Yuge Mizuki, Ohkawa Momoka, Shibata Ryohei, Murakami Hiroaki, Naruto Takuya, Shiiya Shizuka, Omotani Naoko, Nishimura Yuhei, Kurosawa Kenji

Abstract excerpt

Chromatin remodeling is an important system controlling gene expression. CHD3, which is a causative gene of Snijders Blok-Campeau syndrome (SNIBCPS), is a member of the chromodomain helicase DNA-binding (CHD) family related to chromatin remodeling. SNIBCPS is characterized by developmental delay (DD), intellectual disability (ID), macrocephaly, and facial features including a prominent forehead and hypertelorism....

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Identifiers

PMID: 39988727
DOI: 10.1038/s41431-025-01815-y
PMCID: PMC12185722

Genes

CHD3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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