Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.

@article{Alazami2008MutationsIC,
  title={Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.},
  author={Anas M. Alazami and Amr Al-Saif and Abdulaziz Al-Semari and Saeed M Bohlega and Soumaya Zlitni and Fatema Alzahrani and Prashant Bavi and Namik Kaya and Dilek Colak and Hanif Khalak and Andy Baltus and Borut Peterlin and Sumita Danda and Kailash P Bhatia and S. A. Schneider and Nadia Sakati and Christopher A. Walsh and Futwan A. Al-Mohanna and Brian Francis Meyer and Fowzan S Alkuraya},
  journal={American journal of human genetics},
  year={2008},
  volume={83 6},
  pages={684-91}
}
Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome (also referenced as Woodhouse-Sakati syndrome) is a rare autosomal recessive multisystemic disorder. We have identified a founder mutation consisting of a single base-pair deletion in C2orf37 in eight families of Saudi origin. Three other loss-of-function mutations were subsequently discovered in patients of different ethnicities. The gene encodes a nucleolar protein of unknown function, and the cellular… CONTINUE READING
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