Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum.
Borozdin
W
W
Wright
M J
MJ
Hennekam
R C M
RC
Hannibal
M C
MC
Crow
Y J
YJ
Neumann
T E
TE
Kohlhase
J
J
D000328:Adult; D002675:Child, Preschool; D004370:Duane Retraction Syndrome / Q000235:genetics* / Q000473:pathology; D005124:Eye Abnormalities / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007668:Kidney / Q000002:abnormalities* / Q000473:pathology; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics* / Q000502:physiology
C472575:SALL4 protein, human; D014157:Transcription Factors