Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families.
Becker
K
K
Beales
P L
PL
Calver
D M
DM
Matthijs
G
G
Mohammed
S N
SN
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D004268:DNA-Binding Proteins / Q000235:genetics*; D004370:Duane Retraction Syndrome / Q000235:genetics*; D005124:Eye Abnormalities / Q000235:genetics; D005260:Female; D006228:Hand Deformities, Congenital / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D008297:Male; D009154:Mutation / Q000235:genetics*; D051762:PAX2 Transcription Factor; D010641:Phenotype; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
D004268:DNA-Binding Proteins; D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human; D014157:Transcription Factors