Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference53 articles.
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1. Investigation of age-related facial variation among Angelman syndrome patients;Scientific Reports;2021-10-21
2. Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG);Genetics in Medicine;2020-07
3. Whole exome sequencing and methylation‑specific multiplex ligation‑dependent probe amplification applied to identify Angelman syndrome due to paternal uniparental disomy in two unrelated patients;Molecular Medicine Reports;2019-06-05
4. Mosaic isochromosome 15q and maternal uniparental isodisomy for chromosome 15 in a patient with morbid obesity and variant PWS-like phenotype;American Journal of Medical Genetics Part A;2013-05-17
5. Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases;Molecular Cytogenetics;2013
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