Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.

@article{Frjmark2011MutationsIF,
  title={Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.},
  author={A S Fr{\"o}jmark and Jens Schuster and Maria Sobol and Miriam Entesarian and Michaela Brita Christina Kilander and Dana Gabrikov{\'a} and Sadia Nawaz and Shahid M Baig and Gunnar Schulte and Joakim Klar and Niklas Dahl},
  journal={American journal of human genetics},
  year={2011},
  volume={88 6},
  pages={852-860}
}
Inherited and isolated nail malformations are rare and heterogeneous conditions. We identified two consanguineous pedigrees in which some family members were affected by isolated nail dysplasia that suggested an autosomal-recessive inheritance pattern and was characterized by claw-shaped nails, onychauxis, and onycholysis. Genome-wide SNP array analysis of affected individuals from both families showed an overlapping and homozygous region of 800 kb on the long arm of chromosome 8. The candidate… CONTINUE READING
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