Biallelic Mutations of TBC1D24 in Exercise‐Induced Paroxysmal Dystonia
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DOI: 10.1002/mds.27981
Abstract: Mutations affecting TBC1D24 are associated with an expanding spectrum of phenotypes including developmental delay, hearing impairment, Deafness, onychodystrophy, osteodystrophy and mental retardation syndrome (DOORS) syndrome (Mendelian Inerhitance in Man but now used almost exclusively as… read more here.
Keywords: exercise induced; tbc1d24 variants; dystonia; movement disorders ... See more keywords