Article
CEP104 and CEP290; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families.
Archives of Iranian medicine - 1 May 2021
Khoshbakht Shahrouz, Beheshtian Maryam, Fattahi Zohreh, Bazazzadegan Niloofar, Parsimehr Elham, Fadaee Mahsa, Vazehan Raheleh, Faraji Zonooz Mehrshid, Abolhassani Ayda, Makvand Mina, Kariminejad Ariana, Celik Arzu, Kahrizi Kimia, Najmabadi Hossein
Abstract excerpt
BACKGROUND: Neurodevelopmental and intellectual impairments are extremely heterogeneous disorders caused by a diverse variety of genes involved in different molecular pathways and networks. Genetic alterations in cilia, highly-conserved organelles with sensorineural and signal transduction roles can compromise their proper functions and lead to so-called "ciliopathies" featuring intellectual disability (ID) or...
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