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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Bibliografiset tiedot
Julkaisussa:Am J Hum Genet
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Elsevier 2019
Aiheet:
Report
Linkit: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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