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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Enregistré dans:
Détails bibliographiques
Publié dans:Mol Syndromol
Auteurs principaux: Park, Joohyun, Colombo, Roberto, Schäferhoff, Karin, Janiri, Luigi, Grimmel, Mona, Sturm, Marc, Grasshoff, Ute, Dufke, Andreas, Haack, Tobias B., Kehrer, Martin
Format: Artigo
Langue:Inglês
Publié: S. Karger AG 2019
Sujets:
Original Article
Accès en ligne: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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