Novel HIVEP2 Variants in Patients with Intellectual Disability

Intellectual disability (ID) occurs in approximately 1% of the population. Over the last years, broad sequencing approaches such as whole exome sequencing (WES) substantially contributed to the definition of the molecular defects underlying nonsyndromic ID. Pathogenic variants in HIVEP2, which encod...

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Bibliografiske detaljer
Udgivet i:Mol Syndromol
Main Authors: Park, Joohyun, Colombo, Roberto, Schäferhoff, Karin, Janiri, Luigi, Grimmel, Mona, Sturm, Marc, Grasshoff, Ute, Dufke, Andreas, Haack, Tobias B., Kehrer, Martin
Format: Artigo
Sprog:Inglês
Udgivet: S. Karger AG 2019
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Original Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6738162/
https://ncbi.nlm.nih.gov/pubmed/31602191
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000499060
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