SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct

A commonSLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct

(2017) Parna Chattaraj et al.   JOURNAL OF MEDICAL GENETICS

Hearing loss associated with enlarged vestibular aqueduct and zero or one mutant allele of SLC26A4

(2016) Jane Rose et al.   LARYNGOSCOPE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Atypical patterns of segregation of familial enlargement of the vestibular aqueduct

(2015) Julie A. Muskett et al.   LARYNGOSCOPE

Audiologic presentation of enlargement of the vestibular aqueduct according to theSLC26A4genotypes

(2014) Yoon C. Rah et al.   LARYNGOSCOPE

Use ofSLC26A4Mutation Testing for Unilateral Enlargement of the Vestibular Aqueduct

(2014) Parna Chattaraj et al.   JAMA Otolaryngology-Head & Neck Surgery

Correlation between genotype and phenotype in patients with bi-allelicSLC26A4mutations

(2013) H.J. Lee et al.   CLINICAL GENETICS

Evaluation of the Thyroid in Patients With Hearing Loss and Enlarged Vestibular Aqueducts

(2009) Anne C. Madeo et al.   ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY

Hypo-FunctionalSLC26A4variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype-phenotype correlation or coincidental polymorphisms?

(2009) Byung Yoon Choi et al.   HUMAN MUTATION

Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes

(2009) B Y Choi et al.   JOURNAL OF MEDICAL GENETICS