Case Report—An Inherited Loss-of-Function NRXN3 Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions

Background: Heterozygous, large-scale deletions at 14q24.3-31.1 affecting the neurexin-3 gene have been associated with neurodevelopmental disorders such as autism. Both “de novo” occurrences and inheritance from a healthy parent suggest incomplete penetrance and expressivity, especially in autism s...

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Detalles Bibliográficos
Autores principales: Feichtinger, René G., Preisel, Martin, Brugger, Karin, Wortmann, Saskia B., Mayr, Johannes A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10298052/
https://www.ncbi.nlm.nih.gov/pubmed/37372397
http://dx.doi.org/10.3390/genes14061217

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10298052/
https://www.ncbi.nlm.nih.gov/pubmed/37372397
http://dx.doi.org/10.3390/genes14061217

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