Search Results - "Huntington's disease"

Autosomal dominant inheritance

Table of Contents: “…Contents: Autosomal dominant disorders -- Genetics -- Inheritance -- Genetic disorders -- Osteogenesis imperfecta -- RASopathies -- Huntington disease -- Penetrance -- De novo mutations.…”
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Microsatellite and trinucleotide repeat expansion diseases

Table of Contents: “…Contents: Mendelian neurodegenerative diseases are caused by repeat expansions -- The mutation can result in gain-of-function or loss-of-function -- Fragile X syndrome -- Myotonic dystrophy -- Huntington's disease -- Friedrich's ataxia -- C9orf72.…”
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