Article
A zebrafish model for Waardenburg syndrome type IV reveals diverse roles for Sox10 in the otic vesicle.
Disease models & mechanisms - 1 Jan 2000
Dutton Kirsten, Abbas Leila, Spencer Joanne, Brannon Claire, Mowbray Catriona, Nikaido Masataka, Kelsh Robert N, Whitfield Tanya T
Abstract excerpt
In humans, mutations in the SOX10 gene are a cause of the auditory-pigmentary disorder Waardenburg syndrome type IV (WS4) and related variants. SOX10 encodes an Sry-related HMG box protein essential for the development of the neural crest; deafness in WS4 and other Waardenburg syndromes is usually attributed to loss of neural-crest-derived melanocytes in the stria vascularis of the cochlea. However, SOX10 is...
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