Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation.
Albrecht
Beate
B
Liebers
Manuela
M
Kohlhase
Jürgen
J
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*
D018389:Codon, Nonsense; C104146:SALL1 protein, human; D014157:Transcription Factors