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The presence of a widened vestibular aqueduct and progressive sensorineural hearing loss in the Branchio-Oto-Renal syndrome. A family study

✍ Scribed by Chr. Stinckens; L. Standaert; J.W. Casselman; P.L.M Huygen; S. Kumar; J. Van de Wallen; C.W.R.J. Cremers


Book ID
117338135
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
202 KB
Volume
59
Category
Article
ISSN
0165-5876

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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