Branchiootorenal syndrome

A Kochhar, SM Fischer, WJ Kimberling… - American Journal of …, 2007 - Wiley Online Library
syndrome with branchial anomalies, preauricular pits and hearing loss, without associated
renal … [2004] built on this work and performed the first study to analyze the BOR syndrome

Branchiootorenal syndrome: Comprehensive review based on nationwide surveillance in J apan

N Morisada, K Nozu, K Iijima - Pediatrics International, 2014 - Wiley Online Library
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by …
malformation, hearing loss and renal anomalies. The prevalence of BOR syndrome is 1/40 000 …

Branchio-oto-renal syndrome

RJ Smith, C Schwartz - Journal of communication disorders, 1998 - Elsevier
… persons with BO syndrome and … branchio-oto-ureteral (BOU) syndrome also has been
described in two families with the branchial and otologic findings of BOR syndrome but with renal

Anatomical changes and audiological profile in branchio-oto-renal syndrome: a literature review

TA Lindau, ACV Cardoso, NF Rossi… - International Archives …, 2014 - thieme-connect.com
Introduction Branchio-oto-renal (BOR) syndrome is an autosomal-dominant genetic condition
with high penetrance and variable expressivity, with an estimated prevalence of 1 in 40,000…

The branchio-oto-renal syndrome

MH Kemperman, C Stinckens, S Kumar… - Genetic Hearing …, 2002 - karger.com
… clinical aspects of the branchio-oto-renal (BOR) syndrome. The autosomal dominant BOR
syndrome (OMIM# 113650), formerly known as the earpits-deafness syndrome, shows a wide …

Branchiootorenal syndrome: The mutation spectrum in EYA1 and its phenotypic consequences

EH Chang, M Menezes, NC Meyer, RA Cucci… - Human …, 2004 - Wiley Online Library
Branchio-oto-renal (BOR) syndrome: variable expressivity in … Branchio-oto-renal syndrome:
identification of novel … EYA1 protein associated with branchiooto-renal syndrome. Hum Mutat …

Branchio-oto-renal syndrome

B Millman, WS Gibson, WP Foster - Archives of Otolaryngology …, 1995 - jamanetwork.com
… and inci¬ dentally found one member of the family to have unilateral renal agenesis.
Branchiooto syndrome and ear pit deafness syn¬ drome were considered to be distinct en¬ tities …

Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome

AI Unzaki, N Morisada, K Nozu, MJ Ye, S Ito… - Journal of human …, 2018 - nature.com
Branchio-oto-renal (BOR) syndrome is a rare autosomal dominant disorder characterized
by branchiogenic anomalies, hearing loss, and renal anomalies. The aim of this study was to …

Branchiootorenal syndrome: Further delineation of an underdiagnosed syndrome

D Chitayat, KA Hodgkinson, MF Chen… - American journal of …, 1992 - Wiley Online Library
… We report on a woman who was diagnosed with branchio-oto-renal (BOR) syndrome after
2 pregnancies complicated by oligohydramnios due to renal hypoplasia and agenesis. Both …

Branchiootorenal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR

DJ Orten, SM Fischer, JL Sorensen… - Human …, 2008 - Wiley Online Library
Branchiootorenal syndrome (BOR) is an autosomal dominant disorder characterized by
the association of branchial and external ear malformations, hearing loss, and renal anomalies…