Last Posted: Feb 01, 2018
- [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
- Genotype-phenotype correlations for SLC26A4-related deafness.
Azaiez Hela, et al. Human genetics 2007 12 (5) 451-7
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- Alpha-1 Antitrypsin Deficiency
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