Mutation analysis of LMX1B gene in nail-patella syndrome patients.

  title={Mutation analysis of LMX1B gene in nail-patella syndrome patients.},
  author={Iain Mcintosh and Sandra D. Dreyer and Mark V. Clough and Jennifer A Dunston and Wafaa Eyaid and Carmen M Roig and Tara Montgomery and Sirpa Ala-Mello and Ilkka I Kaitila and Andreas Winterpacht and Bernhard Zabel and Moshe Frydman and William G. Cole and Clair A. Francomano and Brendan Lee},
  journal={American journal of human genetics},
  volume={63 6},
Nail-patella syndrome (NPS), a pleiotropic disorder exhibiting autosomal dominant inheritance, has been studied for >100 years. Recent evidence shows that NPS is the result of mutations in the LIM-homeodomain gene LMX1B. To determine whether specific LMX1B mutations are associated with different aspects of the NPS phenotype, we screened a cohort of 41 NPS families for LMX1B mutations. A total of 25 mutations were identified in 37 families. The nature of the mutations supports the hypothesis… CONTINUE READING

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