title: Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation.
authors.forename: Beate
authors.initials: B
authors.lastname: Albrecht
authors.forename: Manuela
authors.initials: M
authors.lastname: Liebers
authors.forename: Jürgen
authors.initials: J
authors.lastname: Kohlhase
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D018389:Codon, Nonsense; D004423:Ear / Q000002:abnormalities; D005192:Family Health; D005260:Female; D014644:Genetic Variation; D006801:Humans; D007021:Hypospadias / Q000473:pathology; D007223:Infant; D007668:Kidney / Q000002:abnormalities; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome; D014034:Toes / Q000002:abnormalities; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; C104146:SALL1 protein, human; D014157:Transcription Factors