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Branchio-oto-renal syndrome (BOR) [4] [5] is an autosomal dominant genetic disorder involving the kidneys, ears, and neck. It is also known as Melnick-Fraser syndrome. It is also known as Melnick-Fraser syndrome.
The clinical features of TBS overlap with VATER and VACTERL associations, oculo-auriculo-vertebral (OAV) spectrum, branchio-oto-renal (BOR) syndrome, and Fanconi anemia and other 'anus-hand-ear' syndromes. [4] Although some symptoms can be life-threatening, many people diagnosed with Townes-Brocks Syndrome live a normal lifespan. [2]
Later, he served as the principal investigator on a National Institutes of Health-funded research grant, which led to the discovery of two genes viz. Branchio-oto-renal syndrome (BOR) and Autosomal Dominant Polycystic Kidney Disease (ADPKD2). [1]
The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome , branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies.
Defects in this gene are a cause of Townes–Brocks syndrome (TBS) as well as branchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene. Two transcript variants encoding different isoforms have been found for this gene.
Brachycephalic airway obstructive syndrome; Brainstem stroke syndrome; Branchio-oculo-facial syndrome; Branchio-oto-renal syndrome; Bromism; Brown's syndrome; Brown-Séquard syndrome; Brown–Vialetto–Van Laere syndrome; Bruck syndrome; Brugada syndrome; Brunner syndrome; Budd–Chiari syndrome; Burning feet syndrome; Burning mouth syndrome ...
Branchio-oculo-facial syndrome; Branchio-oto-renal syndrome (BOR syndrome) Brazilian hemorrhagic fever; Bre–Bro. Breast cancer; Breast cancer, familial;
Enlarged vestibular aqueducts can also occur in branchio-oto-renal syndrome, CHARGE syndrome and renal tubular acidosis. Enlarged vestibular aqueducts can be bilateral or unilateral. Hearing loss caused by large vestibular aqueduct syndrome is not inevitable, although people with the syndrome are at a much higher risk of developing hearing loss ...