Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder that is characterized
by branchial cysts or fistulae, external ear malformations and/or preauricular pits, hearing …

The most frequent causes of chronic renal failure in the first two decades of life are due to
urinary tract malformations. Branchio-oto-renal syndrome (BOR)[OMIM 113650] is an …

Eya1 is a component of the gene-regulatory Pax-Eya-Six-Dach network and essential for the
development of various organs in vertebrates. Mutations in the human EYA1 gene are …

Six1, a homeobox gene highly expressed during embryogenesis, is later down-regulated in
most adult tissues. Six1 over-expression in adult tissues plays a causal role in the onset and …

Abstract Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder
characterized by the association of branchial cysts or fistulae, external ear malformation …

Hearing in infants is essential for brain development, acquisition of verbal language skills,
and development of social interactions. Therefore, it is important to diagnose hearing loss …

The eyes absent 1 protein (Eya1) plays an essential role in the development of various
organs in both invertebrates and vertebrates. Mutations in the human EYA1 gene are linked …

Objective Branchio-oto-renal syndrome (BOR) is a disorder causing abnormalities in the
embryonic development of tissues in the neck, ear and kidneys. BOR affects approximately …

A candidate gene for Branchio-Oto-Renal (BOR) syndrome was identified at chromosome
8q13. 3 by positional cloning and shown to underlie the disease. This gene is a human …

Summary Branchio-oto-renal (BOR) syndrome is a rare autosomal dominant disorder
characterized by branchial cleft fistulae or cysts, preauricular pits, ear malformations …