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      Hearing loss in syndromic craniosynostoses: introduction and consideration of mechanisms.

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          Abstract

          There are a number of craniosynostosis syndromes with hearing loss-including Muenke, Apert, Pfeiffer, Crouzon, Beare-Stevenson, Crouzon with acanthosis nigricans, and Jackson-Weiss syndromes-that result from mutations in the fibroblast growth factor receptor (FGFR) genes. Studies of FGFRs and their ligands, fibroblast growth factors (FGFs), have revealed clues to the precise contribution of aberrant FGFR signaling to inner ear morphogenesis and the hearing loss encountered in craniosynostoses. The purpose of this article is to review basic studies of FGFRs with emphasis on their function and expression in the inner ear and surrounding structures.

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          Author and article information

          Journal
          Am J Audiol
          American journal of audiology
          1558-9137
          1059-0889
          Jun 2014
          : 23
          : 2
          Article
          1850078 NIHMS611116
          10.1044/2014_AJA-13-0036
          24686979
          c4c0b18b-bbf6-42b9-9234-023a612fff72
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