title: GPSM2 mutations in Chudley-McCullough syndrome.
authors.affiliation: Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida 33136, USA.
authors.forename: Oscar
authors.initials: O
authors.lastname: Diaz-Horta
authors.forename: Asli
authors.initials: A
authors.lastname: Sirmaci
authors.forename: Dan
authors.initials: D
authors.lastname: Doherty
authors.forename: Walter
authors.initials: W
authors.lastname: Nance
authors.forename: Kathleen
authors.initials: K
authors.lastname: Arnos
authors.forename: Arti
authors.initials: A
authors.lastname: Pandya
authors.forename: Mustafa
authors.initials: M
authors.lastname: Tekin
mesh_terms: D061085:Agenesis of Corpus Callosum / Q000175:diagnosis / Q000235:genetics*; D016080:Arachnoid Cysts / Q000175:diagnosis / Q000235:genetics*; D001483:Base Sequence; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree
chemical_list: C102754:GPSM2 protein, human; D047908:Intracellular Signaling Peptides and Proteins