article_metadata: Emma Ehn Jesper Eisfeldt Jose M Laffita-Mesa Håkan Thonberg Jacqueline Schoumans Anne M Portaankorva Matti Viitanen Anna Lindstrand Inger Nennesemo Caroline Graff
article_metadata: 10.1038/s41598-025-86645-0
article_metadata: Sci Rep
article_metadata: 2025 Jan 23;15(1):2912.
article_metadata: amyloid-β precursor protein gene (app) autosomal dominant alzheimer disease (adad) cerebral amyloid angiopathy (caa) complex genomic rearrangement (cgr) mosaicism structural variant (sv)
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/39849058/
article_metadata: Alzheimer Disease / genetics Alzheimer Disease / pathology Amyloid beta-Protein Precursor / genetics DNA Copy Number Variations Mosaicism
article_metadata: Alzheimer Disease / genetics Alzheimer Disease / pathology Amyloid beta-Protein Precursor / genetics DNA Copy Number Variations Mosaicism Case Reports Adult Age of Onset Chromosomes, Human, Pair 21 / genetics Female Humans Middle Aged Pedigree Amyloid beta-Protein Precursor APP protein, human
article_metadata: PMC11759332
article_metadata: 39849058
article_metadata: A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease
article_metadata: 2025