Tag

NKX2-1

04
Aug

14q13 deletion, the NKX2-1 gene and BHC

  Chromosome 14q13 deletion, NKX2-1 deletion or mutation and BNC. The chromosomal segment 14q13 includes several genes, including the NKX2-1 gene. Deletions or mutations of this gene cause benign hereditary chorea (BHC). Manifestations of this disorder, which occurs in childhood, include non-progressive choreic movement, usually without cognitive decline. There are...
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