title: Perturbation of the consensus activation site of endothelin-3 leads to Waardenburg syndrome type IV.
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: Hanan E
authors.initials: HE
authors.lastname: Shamseldin
authors.forename: Zuhair
authors.initials: Z
authors.lastname: Rahbeeni
authors.forename: Fowzan S
authors.initials: FS
authors.lastname: Alkuraya
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D016384:Consensus Sequence / Q000235:genetics*; D019334:Endothelin-3 / Q000737:chemistry / Q000235:genetics*; D004789:Enzyme Activation; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D011247:Pregnancy; D014849:Waardenburg Syndrome / Q000235:genetics*
chemical_list: D019334:Endothelin-3