METAP1 Mutation Is a Novel Candidate for Autosomal Recessive Intellectual Disability

Intellectual disability (ID) is a genetic and clinically heterogenous common disease and underlying molecular pathogenesis can frequently not be identified by whole- exome/genome testing. Here, we report 4 siblings born to a consanguineous union who presented with intellectual disability and discuss...

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Vydáno v:J Hum Genet
Hlavní autoři: Caglayan, Ahmet Okay, Aktar, Fesih, Bilguvar, Kaya, Baranoski, Jacob F., Akgumus, Gozde Tugce, Harmanci, Akdes Serin, Erson-Omay, Emine Zeynep, Yasuno, Katsuhito, Caksen, Huseyin, Gunel, Murat
Médium: Artigo
Jazyk:Inglês
Vydáno: 2020
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7785574/
https://ncbi.nlm.nih.gov/pubmed/32764695
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s10038-020-0820-0
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