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Last Posted: Mar 03, 2023

• Study on the relationship between the pathogenic mutations of SLC26A4 and CT phenotypes of inner ear in patient with sensorineural hearing loss.
  Wu Lihua, et al. Bioscience reports 2019 0 (3)
• [Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders].
  Mironovich O L, et al. Genetika 2017 1 (1) 88-99
• Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts.
  Landa Priya, et al. BMC medical genetics 2013 0 85
• Screening of SLC26A4, FOXI1, KCNJ10, and GJB2 in bilateral deafness patients with inner ear malformation.
  Chen Kaitian, et al. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2012 6 (6) 972-8
• Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct.
  Huang Shasha, et al. Journal of translational medicine 2011 0 (1) 167
• Mondini dysplasia
  From NCATS Genetic and Rare Diseases Information Center
• Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct.
  Jonard Laurence, et al. International journal of pediatric otorhinolaryngology 2010 9 (9) 1049-53
• Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA).
  Pourová Radka, et al. Annals of human genetics 2010 7 (4) 299-307
• Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis.
  Dai Pu, et al. Journal of translational medicine 2008 0 (1) 74
• A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China.
  Wang Q-J, et al. Clinical genetics 2007 9 (3) 245-54

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