Genomic Complexity and Complex Chromosomal Rearrangements in Genetic Diagnosis: Two Illustrative Cases on Chromosome 7

Complex chromosomal rearrangements are rare events compatible with survival, consisting of an imbalance and/or position effect of one or more genes, that contribute to a range of clinical presentations. The investigation and diagnosis of these cases are often difficult. The interpretation of the pat...

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Detalles Bibliográficos
Autores principales: Villa, Nicoletta, Redaelli, Serena, Farina, Stefania, Conconi, Donatella, Sala, Elena Maria, Crosti, Francesca, Mariani, Silvana, Colombo, Carla Maria, Dalprà, Leda, Lavitrano, Marialuisa, Bentivegna, Angela, Roversi, Gaia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10530880/
https://www.ncbi.nlm.nih.gov/pubmed/37761840
http://dx.doi.org/10.3390/genes14091700

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10530880/
https://www.ncbi.nlm.nih.gov/pubmed/37761840
http://dx.doi.org/10.3390/genes14091700

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