The modular nature of genetic diseases

@article{Oti2007TheMN,
  title={The modular nature of genetic diseases},
  author={Martin Oti and Han G. Brunner},
  journal={Clinical Genetics},
  year={2007},
  volume={71}
}
Evidence from many sources suggests that similar phenotypes are begotten by functionally related genes. This is most obvious in the case of genetically heterogeneous diseases such as Fanconi anemia, Bardet‐Biedl or Usher syndrome, where the various genes work together in a single biological module. Such modules can be a multiprotein complex, a pathway, or a single cellular or subcellular organelle. This observation suggests a number of hypotheses about the human phenome that are now beginning… Expand
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