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Genomewide Search and Genetic Localization of a Second Gene Associated with Autosomal Dominant Branchio-Oto-Renal Syndrome: Clinical and Genetic Implications

โœ Scribed by Shrawan Kumar; Karen Deffenbacher; Henri A.M. Marres; Cor W.R.J. Cremers; William J. Kimberling

Book ID
117853267
Publisher
American Society of Human Genetics
Year
2000
Tongue
English
Weight
797 KB
Volume
66
Category
Article
ISSN
0002-9297

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Description of a large kindred with auto
Description of a large kindred with autosomal dominant inheritance of branchial arch anomalies, hearing loss, and ear pits, and exclusion of the branchio-oto-renal (BOR) syndrome gene locus (chromosome 8q13.3)
โœ Stratakis, Constantine A.; Lin, Jing Ping; Rennert, Owen M. ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 28 KB ๐Ÿ‘ 2 views

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