2018年1月17日 · BOR/BOS syndrome is caused by mutations in the EYA1(BOR1, BOS2), SIX5 (BOR2), and SIX1 (BOR3, BOS3) genes. BOR/BOS syndrome is inherited as an autosomal …

1999年3月19日 · Branchiootorenal spectrum disorder comprises branchiootorenal (BOR) syndrome and branchiootic syndrome (BOS), two phenotypes that differ only by the presence …

Branchio-oto-renal (BOR) syndrome, also known as Melnick-Fraser syndrome, is a congenital (present at birth) condition characterized by branchial arch malformations. Sometimes, it may …

Branchiootorenal (BOR) syndrome is a condition that disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. Explore symptoms, inheritance, …

Disorder: Branchiootorenal (BOR/BOS) spectrum disorder is characterized by malformations of the external, middle and/or inner ear, branchial clefts or cysts, hearing loss which may be of …

Branchiootorenal (BOR) syndrome is a condition that disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. The signs and symptoms of this …

2022年10月1日 · Branchio-oto-renal syndrome (BOR, OMIM # 113650) is an autosomal dominant disorder characterized by deafness, branchial cleft fistulae and cysts, malformations of the …

Branchio-oto-renal (BOR) syndrome is an autosomal dominant condition characterized by hearing loss, and branchial, otic and renal anomalies. Branchial arch defects include cysts and fistulae.

2015年5月1日 · Branchio Oto Renal Syndrome (BOR) is an autosomal dominant disorder with branchial, otologic and renal manifestations. The presence of clinical signs varies among and …

2017年4月19日 · Branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder characterized by hearing loss, congenital malformations of ear, branchial arch anomalies and …