title: Novel SLC9A6 mutations in two families with Christianson syndrome.
authors.forename: A
authors.initials: A
authors.lastname: Riess
authors.forename: E
authors.initials: E
authors.lastname: Rossier
authors.forename: R
authors.initials: R
authors.lastname: Krüger
authors.forename: A
authors.initials: A
authors.lastname: Dufke
authors.forename: S
authors.initials: S
authors.lastname: Beck-Woedl
authors.forename: V
authors.initials: V
authors.lastname: Horber
authors.forename: M
authors.initials: M
authors.lastname: Alber
authors.forename: D
authors.initials: D
authors.lastname: Gläser
authors.forename: O
authors.initials: O
authors.lastname: Riess
authors.forename: A
authors.initials: A
authors.lastname: Tzschach
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001259:Ataxia / Q000473:pathology; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000473:pathology; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology; D008297:Male; D008831:Microcephaly / Q000473:pathology; D009154:Mutation; D010375:Pedigree; D012640:Seizures / Q000473:pathology; D012737:Sex Factors; D017923:Sodium-Hydrogen Exchangers / Q000235:genetics*; D013577:Syndrome
chemical_list: C445316:SLC9A6 protein, human; D017923:Sodium-Hydrogen Exchangers