Exclusion of genes from the EYA-DACH-SIX-PAX pathway as candidates for Branchio-Oculo-Facial syndrome (BOFS).
Institute of Human Genetics, University of Ulm, Ulm, Germany.
René
R
Kaiser
Elena Guillén
EG
Posteguillo
Dietmar
D
Müller
Walter
W
Just
D000015:Abnormalities, Multiple / Q000235:genetics*; D001934:Branchial Region / Q000002:abnormalities; D005124:Eye Abnormalities / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D051762:PAX2 Transcription Factor / Q000235:genetics*; D010375:Pedigree; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
C486747:DACH1 protein, human; D005136:Eye Proteins; D018398:Homeodomain Proteins; D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human; C099236:SIX1 protein, human; D014157:Transcription Factors; C104381:EYA1 protein, human; D017027:Protein Tyrosine Phosphatases