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A complex 9p24 cryptic rearrangement segregating with heart defect in five generations unraveled using a combined genomics approach of chromosomal microarray, FISH, whole-genome sequencing and optical genome mapping

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Author(s):
Krepischi, Ana ; da Costa, Silvia Souza ; Clavisio Pereira de Oliveira, Andre Rodrigueiro ; Pinheiro, Mara ; Sanseverino, Maria Teresa ; Fishman, Veniamin ; Carvalho, Claudia ; Rosenberg, Carla
Total Authors: 8
Document type: Journal article
Source: European Journal of Human Genetics; v. 32, p. 2-pg., 2024-01-01.
FAPESP's process: 09/00898-1 - Submicroscopic genomic imbalances associated with specific congenital abnormalities and mental deficiency phenotypes
Grantee:Carla Rosenberg
Support Opportunities: Research Projects - Thematic Grants