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  1. Article

    Open Access

    Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients

    Mohr-Tranebjærg syndrome is an X-linked syndrome characterized by sensorineural hearing impairment in childhood, followed by progressive neurodegeneration leading to a broad phenotypic spectrum. Genetically MT...

    Nanna Dahl Rendtorff, Helena Gásdal Karstensen, Marianne Lodahl… in Scientific Reports (2022)

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    Article

    Phenotypic subregions within the split-hand/foot malformation 1 locus

    Split-hand/foot malformation 1 (SHFM1) is caused by chromosomal aberrations involving the region 7q21.3, DLX5 mutation, and dysregulation of DLX5/DLX6 expression by long-range position effects. SHFM1 can be isola...

    Malene B. Rasmussen, Sven Kreiborg, Per Jensen, Mads Bak, Yuan Mang… in Human Genetics (2016)