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Article

A Preterm Infant with Multiple Anomalies Diagnosed with Atypical CHARGE Syndrome after a Novel CHD7 Variant Confirmed Using Whole-Genome Sequencing.

Neonatology - 1 Jan 2020

Kim Hyun Ho, Kim Ah Reum, Kim Nayoung K D, Ahn So Yoon, Sung Se In, Park Won Soon, Lee Chung, Chang Yun Sil, Park Woong-Yang

Abstract excerpt

CHARGE syndrome has a clinically broad spectrum of phenotypes, including partial or atypical type. CHD7 mutation is related to CHARGE syndrome that shows various phenotypes according to the CHD7 variant. Developments in genetic analysis techniques, such as next-generation sequencing (NGS), are helping both diagnosis and treatment of diseases. We report the case of a preterm infant diagnosed with atypical CHARGE...

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PMID: 32126561
DOI: 10.1159/000506165

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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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