Patient with an EYA1 mutation with features of branchio-oto-renal and oto-facio-cervical syndrome.
Mercer
Catherine
C
Dr Catherine Mercer, Wessex Clinical Genetics Service, G Level, Mailpoint 105, Princess Anne Hospital, Coxford Road, Southampton, SO16 5YA.
Gilbert
Rodney
R
Loughlin
Sam
S
Foulds
Nicola
N
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001934:Branchial Region / Q000002:abnormalities; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000473:pathology; D004423:Ear / Q000002:abnormalities; D046089:Hearing Loss, Mixed Conductive-Sensorineural / Q000235:genetics; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D007668:Kidney / Q000002:abnormalities; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D012540:Scapula / Q000002:abnormalities; D013577:Syndrome
D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; C104381:EYA1 protein, human; D017027:Protein Tyrosine Phosphatases