Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment of DFNB35

Authors :: Collin, Rob W.J.
Kalay, Ersan
Tariq, Muhammad
Peters, Theo
Zwaag, Bert van der
Venselaar, Hanka
Oostrik, Jaap
Lee, Kwanghyuk
Ahmed, Zubair M.
Caylan, Refik
Yun Li
Spierenburg, Henk A.
Eyupoglu, Erol
Heister, Angelien
Riazuddin, Saima
Bahat, Elif
Ansar, Muhammad
Arslan, Selcuk
Wollnik, Bernd
Brunner, Han G.
Cremers, Cor W.R.J.
Karaguzel, Ahmet
Ahmad, Wasim
Cremers, Frans P.M.
Vriend, Gert
Friedman, Thomas B.
Riazuddin, Sheikh
Leal, Suzanne M.
Kremer, Hannie
Source :: American Journal of Human Genetics. Jan, 2008, Vol. 82 Issue 1, p125, 14 p.
Publication Year :: 2008
Abstract: The mapping of autosomal-recessive nonsyndromic hearing impairment segregated in a large consanguineous family of Turkish origin to chromosome 14q24.3-q34.12 is described. It is indicated that ESRRB is essential for inner-ear development and function.

Subjects :: Hearing disorders -- Genetic aspects
Consanguinity -- Health aspects
Gene mutations -- Health aspects
Biological sciences

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