Case report of a juvenile patient with autism spectrum disorder with a novel vombination of vopy number variants in ADGRL3 (LPHN3) and two pseudogenes

To our knowledge, this is the first report of a copy number variant in the ADGRL3 gene, and its first association with autism spectrum disorder in humans.

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Bibliographic Details
Main Authors: Maurer, Martin H. (Author) , Kohler, Anja (Author) , Hudemann, Melanie (Author) , Jüngling, Jerome (Author) , Biskup, Saskia (Author) , Menzel, Martin (Author)
Format: Article (Journal)
Language:English
Published: 2 September 2022
In: The application of clinical genetics
Year: 2022, Volume: 15, Pages: 125-131
ISSN:1178-704X
DOI:10.2147/TACG.S361239
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.2147/TACG.S361239
Verlag, lizenzpflichtig, Volltext: https://www.dovepress.com/case-report-of-a-juvenile-patient-with-autism-spectrum-disorder-with-a-peer-reviewed-fulltext-article-TACG
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Author Notes:Martin H. Maurer, Anja Kohler, Melanie Hudemann, Jerome Jüngling, Saskia Biskup, Martin Menzel
Description
Summary:To our knowledge, this is the first report of a copy number variant in the ADGRL3 gene, and its first association with autism spectrum disorder in humans.
Item Description:Gesehen am 23.04.2024
Physical Description:Online Resource
ISSN:1178-704X
DOI:10.2147/TACG.S361239