A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome.
Boardman
J P
JP
Syrris
P
P
Holder
S E
SE
Robertson
N J
NJ
Carter
N
N
Lakhoo
K
K
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*
D044023:Receptor, Endothelin B; D017466:Receptors, Endothelin