The branchio-oto-renal (BOR) syndrome: Report of bilateral renal agenesis in three sibs
โ Scribed by Carmi, R. ;Binshtock, M. ;Abeliovich, D. ;Bar-Ziv, J. ;Opitz, John M.
- Publisher
- John Wiley and Sons
- Year
- 1983
- Tongue
- English
- Weight
- 205 KB
- Volume
- 14
- Category
- Article
- ISSN
- 0148-7299
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๐ SIMILAR VOLUMES
The Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial clefts, preauricular sinuses, hearing loss, and renal anomalies. Recent studies have shown that mutations in EYA1 are associated with BOR. However, the underlying molecular mechanisms by which mutation
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