A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation

@inproceedings{Patel2017ANM,
  title={A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation},
  author={Nisha Patel and A O Khan and Maher Mohammed Al-Saif and Walid N. Moghrabi and Balsam M. AlMaarik and Niema A Ibrahim and Firdous M. Abdulwahab and Mais Hashem and Tarfa A Alshidi and Eman Alobeid and Rana A. Alomar and SAAD A. AL-HARBI and Mohamed Abouelhoda and Khalid S. A. Khabar and Fowzan S Alkuraya},
  booktitle={Genome Biology},
  year={2017}
}
Variable expressivity is a well-known phenomenon in which patients with mutations in one gene display varying degrees of clinical severity, potentially displaying only subsets of the clinical manifestations associated with the multisystem disorder linked to the gene. This remains an incompletely understood phenomenon with proposed mechanisms ranging from… CONTINUE READING
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