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Keywords: Sensorineural hearing loss
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Journal Articles
Detailed Assessment of Renal Function in a Proband with Harboyan Syndrome Caused by a Novel Homozygous SLC4A11 Nonsense Mutation
Available to PurchaseSubject Area:
Ophthalmology
Petra Liskova, Lubica Dudakova, Vladimir Tesar, Vladimira Bednarova, Jana Kidorova, Katerina Jirsova, Alice E. Davidson, Alison J. Hardcastle
Journal:
Ophthalmic Research
Ophthalmic Res (2015) 53 (1): 30–35.
Published Online: 11 December 2014
.... Nephrological examination did not reveal any abnormalities. Moderate bilateral sensorineural hearing loss was confirmed by audiometry. A novel homozygous mutation predicted to lead to a premature stop codon at the protein level, c.2188C>T; p.(Arg730*), was identified in SLC4A11 . No changes in corneal...
