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Article

Phenotypic spectrum of neonatal CHARGE syndrome.

Revista chilena de pediatria - 1 Oct 2019

Sánchez N, Hernández M, Cruz J P, Mellado C

Abstract excerpt

INTRODUCTION: CHARGE syndrome is a genetic disorder of wide phenotypic variability, of autosomal dominant in heritance, caused by pathogenic variants in the CHD7 gene. OBJECTIVE: To describe the broad pheno typic spectrum of neonatal CHARGE syndrome, heterozygous for the CHD7 gene, and the usefulness of genome sequencing in diagnostic confirmation, considering differential diagnoses. CLINICAL CASE: 34-week...

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Identifiers

PMID: 31859737
DOI: 10.32641/rchped.v90i5.1080

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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