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Trait − driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes
BACKGROUND: Individuals with the 2p15p16.1 microdeletion syndrome share a complex phenotype including neurodevelopmental delay, brain malformations, microcephaly, and autistic behavior. The analysis of the shortest region of overlap (SRO) between deletions in ~ 40 patients has led to the identificat...
Autores principales: | Miceli, Martina, Failla, Pinella, Saccuzzo, Lucia, Galesi, Ornella, Amata, Silvestra, Romano, Corrado, Bonaglia, Maria Clara, Fichera, Marco |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Nature Singapore
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10027778/ https://www.ncbi.nlm.nih.gov/pubmed/36807877 http://dx.doi.org/10.1007/s13258-023-01369-7 |
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