Different Types of Deletions Created by Low-Copy Repeats Sequences Location in 22q11.2 Deletion Syndrome: Genotype–Phenotype Correlation

The most frequent microdeletion, 22q11.2 deletion syndrome (22q11.2DS), has a wide and variable phenotype that causes difficulties in diagnosis. 22q11.2DS is a contiguous gene syndrome, but due to the existence of several low-copy-number repeat sequences (LCR) it displays a high variety of deletion...

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Detalles Bibliográficos
Autores principales: Gavril, Eva-Cristiana, Popescu, Roxana, Nucă, Irina, Ciobanu, Cristian-Gabriel, Butnariu, Lăcrămioara Ionela, Rusu, Cristina, Pânzaru, Monica-Cristina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690028/
https://www.ncbi.nlm.nih.gov/pubmed/36360320
http://dx.doi.org/10.3390/genes13112083

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