A splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndrome

@article{ODriscoll2003ASM,
  title={A splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndrome},
  author={Mark O'Driscoll and Victor L. Ruiz-P{\'e}rez and C Geoffrey Woods and Penny A Jeggo and Judith A. Goodship},
  journal={Nature Genetics},
  year={2003},
  volume={33},
  pages={497-501}
}
Seckel syndrome (OMIM 210600) is an autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly and mental retardation. Clinically, Seckel syndrome shares features in common with disorders involving impaired DNA-damage responses, such as Nijmegen breakage syndrome (OMIM 251260) and LIG4 syndrome (OMIM 606593). We previously mapped a locus associated with Seckel syndrome to chromosome 3q22.1–q24 in two consanguineous Pakistani families. Further marker… CONTINUE READING
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