Benefits of exome sequencing in children with suspected isolated hearing loss

Van Heurck, Roxane; Carminho Amaro Rodrigues, Maria Teresa; Ranza, Emmanuelle Nathalie; Stafuzza, Caterina; Quteineh, Lina; Gehrig, Corinne; Hammar Bouveret, Eva; Guipponi, Michel; Abramowicz, Marc; Senn, Pascal; Guinand, Nils; Cao Van, Hélène; Giacobino, Ariane

doi:10.3390/genes12081277

Article scientifique

Accès libre

Anglais

Benefits of exome sequencing in children with suspected isolated hearing loss

Contributeurs/tricesVan Heurck, Roxane; Carminho Amaro Rodrigues, Maria Teresa; Ranza, Emmanuelle Nathalie; Stafuzza, Caterina; Quteineh, Lina; Gehrig, Corinne; Hammar Bouveret, Eva; Guipponi, Michel; Abramowicz, Marc; Senn, Pascal; Guinand, Nils; Cao Van, Hélène; Giacobino, Ariane

Publié dansGenes, vol. 12, no. 8, 1277

Date de publication2021

Résumé

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.

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Groupe de recherche

Citation (format ISO)

VAN HEURCK, Roxane et al. Benefits of exome sequencing in children with suspected isolated hearing loss. In: Genes, 2021, vol. 12, n° 8, p. 1277. doi: 10.3390/genes12081277

Article (Published version)

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Identifiants

PID : unige:154577
DOI : 10.3390/genes12081277
PMID : 34440452

ISSN du journal2073-4425

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Benefits of exome sequencing in children with suspected isolated hearing loss

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