Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference23 articles.
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3. Association of congenital deafness with goitre (Pendred's syndrome);Fraser;Ann Hum Genet,1965
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1. Atypical patterns of segregation of familial enlargement of the vestibular aqueduct;The Laryngoscope;2015-10-20
2. A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes;Experimental Dermatology;2009-09
3. Hypo-FunctionalSLC26A4variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype-phenotype correlation or coincidental polymorphisms?;Human Mutation;2009-04
4. Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA;Proceedings of the National Academy of Sciences;2008-11-18
5. Sensorineural deafness, distinctive facial features, and abnormal cranial bones: A new variant of Waardenburg syndrome?;American Journal of Medical Genetics Part A;2008-07-15
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