Article
Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genes.
Scientific reports - 22 Jan 2020
Darvish Hossein, Azcona Luis J, Tafakhori Abbas, Mesias Roxana, Ahmadifard Azadeh, Sanchez Elena, Habibi Arman, Alehabib Elham, Johari Amir Hossein, Emamalizadeh Babak, Jamali Faezeh, Chapi Marjan, Jamshidi Javad, Kajiwara Yuji, Paisán-Ruiz Coro
Abstract excerpt
Intellectual disability (ID), which presents itself during childhood, belongs to a group of neurodevelopmental disorders (NDDs) that are clinically widely heterogeneous and highly heritable, often being caused by single gene defects. Indeed, NDDs can be attributed to mutations at over 1000 loci, and all type of mutations, ranging from single nucleotide variations (SNVs) to large, complex copy number variations...
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