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Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction

1 May 2018

Abstract excerpt

Unraveling the causes and pathomechanisms of progressive disorders is essential for the development of therapeutic strategies. Here, we identified heterozygous pathogenic missense variants of LMX1A in two families of Dutch origin with progressive nonsyndromic hearing impairment (HI), using whole exome sequencing. One variant, c.721G > C (p.Val241Leu), occurred de novo and is predicted to affect the homeodomain of...

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PMID: 29754270
DOI: 10.1007/s00439-018-1880-5

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