SEMA3E mutation in a patient with CHARGE syndrome.
Lalani
S R
SR
Safiullah
A M
AM
Molinari
L M
LM
Fernbach
S D
SD
Martin
D M
DM
Belmont
J W
JW
D000015:Abnormalities, Multiple / Q000235:genetics*; D002754:Choanal Atresia / Q000235:genetics*; D019457:Chromosome Breakage / Q000235:genetics; D002874:Chromosome Mapping / Q000379:methods; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D003103:Coloboma / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D039961:Semaphorins / Q000235:genetics*; D013577:Syndrome; D014178:Translocation, Genetic / Q000235:genetics
C494123:SEMA3E protein, human; D039961:Semaphorins