An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome
M O'Driscoll, AR Gennery, J Seidel, P Concannon… - DNA repair, 2004 - Elsevier
Around 15–20 hereditary disorders associated with impaired DNA damage response
mechanisms have been previously described. The range of clinical features associated with
these disorders attests to the significant role that these pathways play during development.
Recently, three new such disorders have been reported extending the importance of the
damage response pathways to human health. LIG4 syndrome is conferred by hypomorphic
mutations in DNA ligase IV, an essential component of DNA non-homologous end-joining …
mechanisms have been previously described. The range of clinical features associated with
these disorders attests to the significant role that these pathways play during development.
Recently, three new such disorders have been reported extending the importance of the
damage response pathways to human health. LIG4 syndrome is conferred by hypomorphic
mutations in DNA ligase IV, an essential component of DNA non-homologous end-joining …