Germ cell mosaicism for AUTS2 exon 6 deletion
Author:
Affiliation:
1. Institute of Human Genetics Heidelberg University Heidelberg Germany
2. Center for Child Neurology and Social Pediatrics Maulbronn Maulbronn Germany
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62091
Reference15 articles.
1. De novo single exon deletion ofAUTS2in a patient with speech and language disorder: A review of disruptedAUTS2and further evidence for its role in neurodevelopmental disorders
2. The clinical significance of small copy number variants in neurodevelopmental disorders
3. Direct fluorescent labelling of clones by DOP PCR
4. Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome
5. A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype
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1. RINGs, DUBs and Abnormal Brain Growth—Histone H2A Ubiquitination in Brain Development and Disease;Epigenomes;2022-12-02
2. Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation;Genes;2021-08-30
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