title: Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome.
authors.forename: C
authors.initials: C
authors.lastname: Blanck
authors.forename: J
authors.initials: J
authors.lastname: Kohlhase
authors.forename: S
authors.initials: S
authors.lastname: Engels
authors.forename: P
authors.initials: P
authors.lastname: Burfeind
authors.forename: W
authors.initials: W
authors.lastname: Engel
authors.forename: A
authors.initials: A
authors.lastname: Bottani
authors.forename: M S
authors.initials: MS
authors.lastname: Patel
authors.forename: H Y
authors.initials: HY
authors.lastname: Kroes
authors.forename: J M
authors.initials: JM
authors.lastname: Cobben
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D000328:Adult; D001006:Anus, Imperforate / Q000209:etiology / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000209:etiology / Q000235:genetics; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C104146:SALL1 protein, human; D014157:Transcription Factors