Results 11 -
15
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15
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Spastic "paraplegia," autosomal dominant
- ... TUBB4A gene mutations. beta-5 dystonia 4, torsion (autosomal dominant) DYT4 TUBB4 tubulin beta-4 chain tubulin beta- ... DN, Kalaydjieva L, Tournev I, Jordanova A. Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia. Mov Disord. 2015 May;30(6):854-8. ...
- ... the OPA3 gene have been found to cause autosomal dominant optic atrophy and cataract. This condition causes slowly ... problems.Mutations in the OPA3 gene that cause autosomal dominant optic atrophy and cataract occur in one copy ...
- ... mutations in other genes, it often has an autosomal dominant pattern of inheritance, which means one copy of ... JP. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet. 2003 Apr;33(4): ...
- ... TUBB4A TUBB4A-related leukodystrophy is inherited in an autosomal dominant pattern, which means one copy of the altered ... DN, Kalaydjieva L, Tournev I, Jordanova A. Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia. Mov Disord. 2015 May;30(6):854-8. ...
- ... or TUBA1A gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered ...
