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Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia.
Clin Genet. 2008 Jun;73(6):554-65. doi: 10.1111/j.1399-0004.2008.01004.x. Epub 2008 Apr 22.
Clin Genet. 2008.
PMID: 18435799
Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia.
Tekin M, Hişmi BO, Fitoz S, Ozdağ H, Cengiz FB, Sirmaci A, Aslan I, Inceoğlu B, Yüksel-Konuk EB, Yilmaz ST, Yasun O, Akar N.
Tekin M, et al. Among authors: yuksel konuk eb.
Am J Hum Genet. 2007 Feb;80(2):338-44. doi: 10.1086/510920. Epub 2006 Dec 27.
Am J Hum Genet. 2007.
PMID: 17236138
Free PMC article.
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Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations.
Sirmaci A, Duman D, Oztürkmen-Akay H, Erbek S, Incesulu A, Oztürk-Hişmi B, Arici ZS, Yüksel-Konuk EB, Taşir-Yilmaz S, Tokgöz-Yilmaz S, Cengiz FB, Aslan I, Yildirim M, Hasanefendioğlu-Bayrak A, Ayçiçek A, Yilmaz I, Fitoz S, Altin F, Ozdağ H, Tekin M.
Sirmaci A, et al. Among authors: yuksel konuk eb.
Int J Pediatr Otorhinolaryngol. 2009 May;73(5):699-705. doi: 10.1016/j.ijporl.2009.01.005. Epub 2009 Feb 1.
Int J Pediatr Otorhinolaryngol. 2009.
PMID: 19187973
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Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: a case report.
Balci S, Ergün MA, Yüksel-Konuk EB, Bartsch O.
Balci S, et al. Among authors: yuksel konuk eb.
Turk J Pediatr. 2008 May-Jun;50(3):265-8.
Turk J Pediatr. 2008.
PMID: 18773673
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