title: Familial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1.
authors.affiliation: Department of Genetics, University of Alabama, Birmingham, Alabama, USA.
authors.forename: Kara
authors.initials: K
authors.lastname: Goodin
authors.forename: Sandra
authors.initials: S
authors.lastname: Prucka
authors.forename: Audie L
authors.initials: AL
authors.lastname: Woolley
authors.forename: Juergen
authors.initials: J
authors.lastname: Kohlhase
authors.forename: Richard J H
authors.initials: RJ
authors.lastname: Smith
authors.forename: John
authors.initials: J
authors.lastname: Grant
authors.forename: Nathaniel H
authors.initials: NH
authors.lastname: Robin
mesh_terms: 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
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; C104146:SALL1 protein, human; D014157:Transcription Factors; C104381:EYA1 protein, human; D017027:Protein Tyrosine Phosphatases