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Letter
Nature Genetics 33, 497–501 (1 April 2003) | doi:10.1038/ng1129
A splicing mutation affecting expression of ataxia|[ndash]|telangiectasia and Rad3|[ndash]|related protein (ATR) results in Seckel syndrome
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Abstract
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).
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