Branchio-oto-renal syndrome: Reduced penetrance and variable expressivity in four generations of a large kindred
β Scribed by Heimler, Audrey ;Lieber, Ernest ;Opitz, John M. ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1986
- Tongue
- English
- Weight
- 905 KB
- Volume
- 25
- Category
- Article
- ISSN
- 0148-7299
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It has been suggested that branchio-oculo-facial (BOF) syndrome, deafness with ear pits, and associated conditions [MIM nos. 125100, 120502], and branchio-oto-renal (BOR) [MIM no. 113650] or Melnick-Fraser syndrome represent phenotypic variants of the BOR syndrome, which is inherited in an autosomal
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial, ear, and renal anomalies. Over 80 mutations in EYA1 have been reported in BOR. Mutations in SIX1, a DNA binding protein that associates with EYA1, have been reported less frequently. One group has recentl