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Article

Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome.

Journal of human genetics - 1 May 2025

Kim Dohyung, Yoon Ji-Hee, Bae Hyunwoo, Hwang Soojin, Seo Go Hun, Koh June-Young, Ju Young Seok, Do Hyo-Sang, Kim Soyoung, Choi In Hee, Kim Gu-Hwan, Kim Ja Hye, Choi Jin-Ho, Lee Beom Hee

Abstract excerpt

The Verloes or Hale diagnostic criteria have been applied for diagnosing CHARGE syndrome in suspected patients. This study was conducted to evaluate the diagnostic rate of CHD7 according to these diagnostic criteria in suspected patients and also to investigate other genetic defects in CHD7-negative patients. The clinical findings and the results of genetic testing of CHD7, chromosome microarray, exome...

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Source

Identifiers

PMID: 40000719
DOI: 10.1038/s10038-025-01325-1

Genes

CHD7
OTX2
PLCB4
TRRAP

Provenance

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