Concepedia
International Journal of Pediatric Otorhinolaryngology · 2008 · 81 citations · 40 references
Open access
Functional GenomicsGenetic DisorderMedicineGeneticsMolecular AnalysisSlc26a4 GenesMolecular GeneticsGene CharacterizationDisease Gene IdentificationCochlear DevelopmentKorean Deafness PatientsGene ExpressionMolecular DiagnosticsCell BiologyVariant Interpretation
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Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
Lorraine A. Everett, Benjamin Gläser, John C. Beck et al. · Nature Genetics · 1997 · 1.1K citations
Urology, Mendelian Disorder, Genetic Disorder +7
Connexin26 mutations associated with the most common form of non- syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans
Leopoldo Zelante · Human Molecular Genetics · 1997 · 623 citations
A Deletion Involving the Connexin 30 Gene in Nonsyndromic Hearing Impairment
Ignacio del Castillo, Manuela Villamar, Miguel A. Moreno‐Pelayo et al. · New England Journal of Medicine · 2002 · 582 citations · Full text
The Large Vestibular Aqueduct Syndrome
Galdino E. Valvassori, Jack D. Clemis · The Laryngoscope · 1978 · 559 citations
Central Vestibular System, Inner Ear Tomography, Vestibular System +12
Mutations in the Connexin 26 Gene (<i>GJB2</i>) among Ashkenazi Jews with Nonsyndromic Recessive Deafness
Robert J. Morell, Hung Jeff Kim, Linda J. Hood et al. · New England Journal of Medicine · 1998 · 544 citations