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Article

Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family.

International journal of audiology - 1 Jan 2015

Dantas Vitor G L, Freitas Erika L, Della-Rosa Valter A, Lezirovitz Karina, de Moraes Ana Maria S M, Ramos Silvia B, Oiticica Jeanne, Alves Leandro U, Pearson Peter L, Rosenberg Carla, Mingroni-Netto Regina C

Abstract excerpt

OBJECTIVE: To identify novel genetic causes of syndromic hearing loss in Brazil. DESIGN: To map a candidate chromosomal region through linkage studies in an extensive Brazilian family and identify novel pathogenic variants using sequencing and array-CGH. STUDY SAMPLE: Brazilian pedigree with indi...

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Source

Identifiers

PMID: 25926005
DOI: 10.3109/14992027.2015.1030511

Genes

EYA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-25926005-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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