Several single-nucleotide mutations in SIX1 underlie branchio-otic/branchio-oto-renal (BOR)
syndrome, but the clinical literature has not been able to correlate different variants with …

Single-nucleotide mutations in human SIX1 result in amino acid substitutions in either the
protein-protein interaction domain or the homeodomain, and cause∼ 4% of branchio-otic …

Branchio-oto-renal syndrome (BOR) is an autosomal dominant developmental disorder
characterized by hearing loss, branchial arch defects, and renal anomalies. Recently, eight …

Branchio-oto-renal syndrome (BOR) is an autosomal dominant developmental disorder
characterized by the association of branchial arch defects, hearing loss, and renal …

Urinary tract malformations constitute the most frequent cause of chronic renal failure in the
first two decades of life. Branchio-otic (BO) syndrome is an autosomal dominant …

Abstract Branchio-oto-renal (BOR)/branchio-otic (BO) syndrome is a rare disorder and
exhibits clinically heterogenous phenotypes, marked by abnormalities in the ear, branchial …

Branchio-oto-renal syndrome (BOR) is a disorder characterized by hearing loss, and
craniofacial and/or renal defects. Variants in the transcription factor Six1 and its co-factor …

Background: Six1 plays an important role in the development of several vertebrate organs,
including cranial sensory placodes, somites, and kidney. Although Six1 mutations cause …

Abstract Branchio‐oto‐renal (BOR) syndrome is an autosomal dominant disorder
characterized by branchial, ear, and renal anomalies. Over 80 mutations in EYA1 have been …

Branchio-oto-renal (BOR) and Branchio-otic (BO) syndromes are dominant disorders
characterized by variable hearing impairment (HI) and branchial defects. BOR includes …