Familial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1.
Goodin
Kara
K
Department of Genetics, University of Alabama, Birmingham, Alabama, USA.
Prucka
Sandra
S
Woolley
Audie L
AL
Kohlhase
Juergen
J
Smith
Richard J H
RJ
Grant
John
J
Robin
Nathaniel H
NH
D000293:Adolescent; D005190:Family; D005260:Female; D006053:Goldenhar Syndrome / Q000235:genetics*; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D055815:Young Adult
D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; C104146:SALL1 protein, human; D014157:Transcription Factors; C104381:EYA1 protein, human; D017027:Protein Tyrosine Phosphatases