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Article

CHARGE: an association or a syndrome?

International journal of pediatric otorhinolaryngology - 1 Jul 2010

Pampal Arzu

Abstract excerpt

INTRODUCTION: CHARGE "association" is a rare clinical entity with multiple congenital anomalies that necessitates a multidisciplinary approach. Its diagnosis is important not only for the pediatric surgery practice but also for the otorhinolaryngology practice as it complicates with a number of major surgical anomalies. The aim of this paper is to present the latest evidences on the genetic basis of the disease....

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Source

Identifiers

PMID: 20363513
DOI: 10.1016/j.ijporl.2010.03.019

Genes

CHD7

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

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CHARGE: an association or a syndrome?PMID 20363513Read ↗

Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.Semantic proximity Read ↗

CHARGE syndrome.Semantic proximity Read ↗

Mutation update on the CHD7 gene involved in CHARGE syndrome.Semantic proximity Read ↗

Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.Semantic proximity Read ↗

CHARGE syndrome: a review.Semantic proximity Read ↗

Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.Semantic proximity Read ↗

CHARGE syndrome: an update.Semantic proximity Read ↗

Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome.Semantic proximity Read ↗

Clinical data and genetic mutation in Kallmann syndrome with CHARGE syndrome: Case report and pedigree analysis.Semantic proximity Read ↗

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.Semantic proximity Read ↗

8q12.1q12.3 de novo microdeletion involving the CHD7 gene in a patient without the major features of CHARGE syndrome: case report and critical review of the literature.Semantic proximity Read ↗

Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes.Semantic proximity Read ↗

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