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Article

De novo Splice Site Mutation of the CHD7 Gene in a Chinese Patient with Typical CHARGE Syndrome.

ORL; journal for oto-rhino-laryngology and its related specialties - 1 Jan 2022

Wang Shujuan, Lin Ying, Liang Pengfei, Li Qiong, Li Wei, Wang Zhaoxia, Wang Jian, Chen Jun, Zha Dingjun

Abstract excerpt

INTRODUCTION: CHARGE syndrome (CS, OMIM 214800) is a rare genetic disease characterized by multiple congenital abnormalities, including coloboma, heart defect, atresia of the choanae, retardation of development, genital anomalies, and ear anomalies/deafness. The syndrome is mainly caused by a heterozygous variant in the chromodomain helicase DNA-binding protein 7 (CHD7) gene that encodes the CHD7 protein,...

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Source

Identifiers

PMID: 35078197
DOI: 10.1159/000520376

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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De novo Splice Site Mutation of the CHD7 Gene in a Chinese Patient with Typical CHARGE Syndrome.PMID 35078197Read ↗

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