title: SEMA3E mutation in a patient with CHARGE syndrome.
authors.forename: S R
authors.initials: SR
authors.lastname: Lalani
authors.forename: A M
authors.initials: AM
authors.lastname: Safiullah
authors.forename: L M
authors.initials: LM
authors.lastname: Molinari
authors.forename: S D
authors.initials: SD
authors.lastname: Fernbach
authors.forename: D M
authors.initials: DM
authors.lastname: Martin
authors.forename: J W
authors.initials: JW
authors.lastname: Belmont
mesh_terms: 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
chemical_list: C494123:SEMA3E protein, human; D039961:Semaphorins