title: A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome.
authors.forename: J P
authors.initials: JP
authors.lastname: Boardman
authors.forename: P
authors.initials: P
authors.lastname: Syrris
authors.forename: S E
authors.initials: SE
authors.lastname: Holder
authors.forename: N J
authors.initials: NJ
authors.lastname: Robertson
authors.forename: N
authors.initials: N
authors.lastname: Carter
authors.forename: K
authors.initials: K
authors.lastname: Lakhoo
mesh_terms: D004252:DNA Mutational Analysis; D004314:Down Syndrome / Q000150:complications / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006627:Hirschsprung Disease / Q000150:complications / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D017496:Hypopigmentation / Q000150:complications / Q000235:genetics; D007231:Infant, Newborn; D007415:Intestinal Obstruction / Q000150:complications / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D044023:Receptor, Endothelin B; D017466:Receptors, Endothelin / Q000235:genetics*; D013577:Syndrome; D014849:Waardenburg Syndrome / Q000150:complications / Q000235:genetics*
chemical_list: D044023:Receptor, Endothelin B; D017466:Receptors, Endothelin