Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly

Intellectual disability (ID) is a genetically and clinically heterogeneous disorder, characterized by limited cognitive abilities and impaired adaptive behaviors. In recent years, exome sequencing (ES) has been instrumental in deciphering the genetic etiology of ID. Here, through ES of a large cohor...

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書誌詳細
出版年:Am J Hum Genet
主要な著者: Richard, Elodie M., Polla, Daniel L., Assir, Muhammad Zaman, Contreras, Minerva, Shahzad, Mohsin, Khan, Asma A., Razzaq, Attia, Akram, Javed, Tarar, Moazzam N., Blanpied, Thomas A., Ahmed, Zubair M., Abou Jamra, Rami, Wieczorek, Dagmar, van Bokhoven, Hans, Riazuddin, Sheikh, Riazuddin, Saima
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2019
主題:
Report
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6817559/
https://ncbi.nlm.nih.gov/pubmed/31564433
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.09.007
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