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Article

Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.

Genes - 20 Aug 2021

Van Heurck Roxane, Carminho-Rodrigues Maria Teresa, Ranza Emmanuelle, Stafuzza Caterina, Quteineh Lina, Gehrig Corinne, Hammar Eva, Guipponi Michel, Abramowicz Marc, Senn Pascal, Guinand Nils, Cao-Van Helene, Paoloni-Giacobino Ariane

Abstract excerpt

PURPOSE: Hearing loss is characterized by an extensive genetic heterogeneity and remains a common disorder in children. Molecular diagnosis is of particular benefit in children, and permits the early identification of clinically-unrecognized hearing loss syndromes, which permits effective clinical management and follow-up, including genetic counselling. METHODS: We performed whole-exome sequencing with the...

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Identifiers

PMID: 34440452
DOI: 10.3390/genes12081277
PMCID: PMC8391342

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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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