Otolith
- Six1 proteins with human branchio-oto-renal mutations differentially affect cranial gene expression and otic development
Summary: Branchio-otic/branchio-oto-renal syndromes result in craniofacial defects including deafness. Four of the known human SIX1 mutations cause differential changes in craniofacial gene expression and otic morphology when expressed in Xenopus embryos.