FGF3
MIM.164950 11q13
Pathology
germline mutations of FGF3 in autosomal recessive congenital deafness with by type I microtia, microdontia, and profound congenital deafness associated with a complete absence of inner ear structures (Michel aplasia) (MIM.610706).
See also
FGFs
References
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. PMID: #17236138#