Article
Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness.
Clinical genetics - 1 May 2004
Shears D, Conlon H, Murakami T, Fukai K, Alles R, Trembath R, Bitner-Glindzicz M
Abstract excerpt
We report two cases in which the probands presented with deafness and a family history of a dominantly inherited auditory pigmentary syndrome, yet the cause of deafness in each proband was not associated with the pigmentary abnormalities but was a result of mutations in SLC26A4, the gene mutated...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.