Health / Medical Topics |
Waardenburg Syndrome Type 1
A rare autosomal dominant syndrome caused by mutations in the PAX3 gene. It is characterized by hearing loss, dystopia canthorum (widely spaced inner corners of the eyes), and changes in the color of the skin, hair, and eyes. (NCI Thesaurus)
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A rare, autosomal dominant inherited syndrome caused by mutations in the PAX3, MITF, and SNAI2 genes. Signs and symptoms include hearing loss,…
Provider: Wisconsin Alumni Research Foundation (WARF), Madison, WI. Information from provider and not independently verified by NIH: Cells are positive for cell…
Provider: Wisconsin Alumni Research Foundation (WARF), Madison, WI. Information from provider and not independently verified by NIH: Cells are positive for cell…
Provider: Wisconsin Alumni Research Foundation (WARF), Madison, WI. Information from provider and not independently verified by NIH: Cells are positive for cell…
Provider: Wisconsin Alumni Research Foundation (WARF), Madison, WI. Information from provider and not independently verified by NIH: Cells are positive for cell…
Provider: Wisconsin Alumni Research Foundation (WARF), Madison, WI. Information from provider and not independently verified by NIH: Cells are positive for cell…