Genetic Conditions > congenital deafness with labyrinthine aplasia, microtia, and microdontia >

References

These sources were used to develop the Genetics Home Reference condition summary on congenital deafness with labyrinthine aplasia, microtia, and microdontia.

Alsmadi O, Meyer BF, Alkuraya F, Wakil S, Alkayal F, Al-Saud H, Ramzan K, Al-Sayed M. Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3). Eur J Hum Genet. 2009 Jan;17(1):14-21. doi: 10.1038/ejhg.2008.141. Epub 2008 Aug 13. PubMed citation
Gene Review: Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia
Riazuddin S, Ahmed ZM, Hegde RS, Khan SN, Nasir I, Shaukat U, Riazuddin S, Butman JA, Griffith AJ, Friedman TB, Choi BY. Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome. BMC Med Genet. 2011 Feb 9;12:21. doi: 10.1186/1471-2350-12-21. PubMed citation
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. Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia. Am J Hum Genet. 2007 Feb;80(2):338-44. Epub 2006 Dec 27. PubMed citation
Tekin M, Oztürkmen Akay H, Fitoz S, Birnbaum S, Cengiz FB, Sennaroğlu L, Incesulu A, Yüksel Konuk EB, Hasanefendioğlu Bayrak A, Sentürk S, Cebeci I, Utine GE, Tunçbilek E, Nance WE, Duman D. 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. PubMed citation


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