Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population

@article{GonzagaJauregui2015MutationsIC,
  title={Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population},
  author={Claudia Gonzaga-Jauregui and Candace N Gamble and Bo Yuan and Samantha J Penney and Shalini N. Jhangiani and Donna M. Muzny and Richard A. Gibbs and James R Lupski and Jacqueline Tauber Hecht},
  journal={European Journal of Human Genetics},
  year={2015},
  volume={23},
  pages={342-346}
}
Osteochondrodysplasias represent a large group of developmental structural disorders that can be caused by mutations in a variety of genes responsible for chondrocyte development, differentiation, mineralization and early ossification. The application of whole-exome sequencing to disorders apparently segregating as Mendelian traits has proven to be an effective approach to disease gene identification for conditions with unknown molecular etiology. We identified a homozygous missense variant p… CONTINUE READING
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