Branchio-oto-renal syndrome (BOR) is an autosomal dominant genetic disorder involving the kidneys, ears, and neck. It is also known as Melnick-Fraser...

associated with renal anomalies. In rare circumstances these pits may be seen in genetic conditions such as branchio-oto-renal syndrome; however these...

associated with renal dysplasia (in syndromes) have been determined. The mutations in question occur at EYA1 or SIX1 genes (branchio-oto-renal syndrome). The PAX2...

Bonnet–Dechaume–Blanc syndrome Bowen–Conradi syndrome Brachycephalic airway obstructive syndrome Brainstem stroke syndrome Branchio-oculo-facial syndrome Branchio-oto-renal...

Branchio-oculo-facial syndrome is difficult to diagnose because it has incomplete penetrance. It is often misdiagnosed as branchio-oto-renal syndrome...

Down syndrome, Kallmann syndrome, branchio-oto-renal syndrome and others.[citation needed] The prevalence of unilateral renal agenesis in the population...

linked Branchio-oculo-facial syndrome Hing type Branchio-oculo-facial syndrome Branchio-oto-renal syndrome (BOR syndrome) Brazilian hemorrhagic fever...

occur in cases of Pendred Syndrome and Branchio-oto-renal syndrome and in other syndromes, but can occur in non-syndromic deafness. Shah, SM; Prabhu...

However, if skin pits are found on both sides of the neck, then, branchio-oto-renal syndrome should be ruled out. Infection of the cysts in this region can...

"Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome". Journal of Medical Genetics. 32 (10): 816–818. doi:10.1136/jmg...

needed] Unlike branchio-oto-renal (BOR) syndrome, Lachiewicz–Sibley syndrome is characterized by only preauricular pitting and renal disease. Persons...

Pendred syndrome, which is caused by a defect on chromosome 7q31. Enlarged vestibular aqueducts can also occur in branchio-oto-renal syndrome, CHARGE...

syndrome where development of the 1st and 2nd branchial arches is seen such as in Goldenhar syndrome, Treacher Collins syndrome, branchio-oto-renal syndrome...

expression in the developing kidney, lead to the renal abnormalities of BOR syndrome (branchio-oto-renal syndrome). Mesenchyme Metanephros Blastema Kidney development...

genetic syndromes such as LAMM syndrome (labyrinthine aplasia, microtia and microdontia), Pendred syndrome, branchio-oto-renal syndrome, CHARGE syndrome GATA2...

genetics. He contributed to the discovery of two genes related to Branchio-oto-renal syndrome (BOR) and Autosomal Dominant Polycystic Kidney Disease (ADPKD2)...

human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family". Nat Genet. 15 (2): 157–64...

oculo-auriculo-vertebral (OAV) spectrum, branchio-oto-renal (BOR) syndrome, and Fanconi anemia and other 'anus-hand-ear' syndromes. Although some symptoms can be...

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...

D, Petit C, Hildebrandt F (May 2004). "SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes". Proceedings of the...

between mouse Eyal harboring mutations found in patients with branchio-oto-renal syndrome and Six, Dach, and G proteins". J. Hum. Genet. 47 (3): 0107–0116...

Beckwith–Wiedemann syndrome MeSH C16.131.077.137 – Bloom syndrome MeSH C16.131.077.208 – branchio-oto-renal syndrome MeSH C16.131.077.250 – Cockayne syndrome MeSH C16...

oxidoreductase maps to the region of chromosome 8 involved in branchio-oto-renal syndrome". Genomics. 35 (1): 6–10. doi:10.1006/geno.1996.0316. PMID 8661098...

(2007). "Transcription Factor SIX5 Is Mutated in Patients with Branchio-Oto-Renal Syndrome". Am. J. Hum. Genet. 80 (4): 800–4. doi:10.1086/513322. PMC 1852719...

human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family". Nature Genetics. 15 (2):...