Patterned expression in familial Klippel-Feil syndrome.

  title={Patterned expression in familial Klippel-Feil syndrome.},
  author={Raymond A. Clarke and John H. Kearsley and David Walsh},
  volume={53 3},
Klippel-Feil syndrome (KFS) is characterised by congenital fusion of vertebrae within the rostral spine. The first KFS gene (SGM1) locus identified on chromosome 8 segregates with vertebral fusions and associated vocal impairment within the KF2-01 family (Clarke et al., '94, '95). Here, we describe the unique pattern of variable phenotypic expression within the KF2-01 family. The pattern of anomalies revealed a cumulative, rostrocaudal graded sequence of skipped vertebral fusions. This fusion… CONTINUE READING

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