branchio-oto-renal syndrome

an autosomal dominant disorder manifested by branchial cysts, preauricular skin tags or sinuses, ear anomalies, and kidney malformations; caused by mutation in the EYA1 gene on 8q. Synonym(s): BOR syndrome, branchio-oto-renal dysplasia

branchio-oto-renal syndrome

An AD condition characterized by mixed hearing loss accompanied by a Mondini-type cochlear malformation, bilateral renal dysplasia with abnormalities of collecting ducts, and bilateral branchial clefts and/or cysts; BORS may be linked to breakpoint mutations on chromosome 8q

单词	branchio-oto-renal syndrome
释义	branchio-oto-renal syndrome branchio-oto-renal syndrome an autosomal dominant disorder manifested by branchial cysts, preauricular skin tags or sinuses, ear anomalies, and kidney malformations; caused by mutation in the EYA1 gene on 8q. Synonym(s): BOR syndrome, branchio-oto-renal dysplasia branchio-oto-renal syndrome An AD condition characterized by mixed hearing loss accompanied by a Mondini-type cochlear malformation, bilateral renal dysplasia with abnormalities of collecting ducts, and bilateral branchial clefts and/or cysts; BORS may be linked to breakpoint mutations on chromosome 8q
随便看	agency incentive arrangement agency infocenter agency information management system agency in-house reviews agency insurance services u.s. agency investigation panel agency (law) agency leader development program agency lending disclosure of principal agency liaison agency liaison officer agency loan agency loans agency location code agency logistics center agency management resource group agency management software agency management system agency manager agency managers agency medical directors' group agency mission essential task list agency mission essential tasks agency network agency networks