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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Am J Hum Genet
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2019
Gaiak:
Report
Sarrera elektronikoa: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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