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A father and son are described with an autosomal dominant branchial cleft syndrome resembling both the branchio-oto-renal and the branchio-oculo-facial syndrome. Both syndromes may represent variant expressions of the same autosomal dominant gene.
Clinical Genetics – Wiley
Published: May 1, 1990
Keywords: branchial clefts; branchio-oculo-facial (BOF) syndrome; branchio-oto-renal (BOR) syndrome; hearing loss
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