Article
A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation.
Genome biology - 28 Jul 2017
Patel Nisha, Khan Arif O, Al-Saif Maher, Moghrabi Walid N, AlMaarik Balsam M, Ibrahim Niema, Abdulwahab Firdous, Hashem Mais, Alshidi Tarfa, Alobeid Eman, Alomar Rana A, Al-Harbi Saad, Abouelhoda Mohamed, Khabar Khalid S A, Alkuraya Fowzan S
Abstract excerpt
BACKGROUND: 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 allele-specific to stochastic. RESULTS: We...
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