Branchio‐oto‐renal 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 …
renal … [2004] built on this work and performed the first study to analyze the BOR syndrome …
Branchio‐oto‐renal 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 …
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 …
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
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…
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 …
syndrome (OMIM# 113650), formerly known as the earpits-deafness syndrome, shows a wide …
Branchio‐oto‐renal 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 …
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 …
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
… 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 …
by branchiogenic anomalies, hearing loss, and renal anomalies. The aim of this study was to …
Branchio‐oto‐renal 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 …
2 pregnancies complicated by oligohydramnios due to renal hypoplasia and agenesis. Both …
Branchio‐oto‐renal 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
… Branchio‐oto‐renal syndrome (BOR) is an autosomal dominant disorder characterized by
the association of branchial and external ear malformations, hearing loss, and renal anomalies…
the association of branchial and external ear malformations, hearing loss, and renal anomalies…
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