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Familial branchio-oto-renal dysplasia: A new addition to the branchial arch syndromes

✍ Scribed by Michael Melnick; David Bixler; Walter E. Nance; Kenneth Silk; Huen Yune


Book ID
119838392
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
674 KB
Volume
9
Category
Article
ISSN
0009-9163

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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