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Pure Interstitial 7q21.3-q 31.1 Duplication: A Rare Segmental Genomic Aneuploidy: Case Report and Review of Cases with Distal and Similar Segment Involved
In children with developmental delay (DD) and neurologic impairment, diagnosis can be challenging because of the wide spectrum of causes. Since the last decade, the use of array comparative genomic hybridization (CGH) offered a great contribution to get a diagnosis in complex phenotypes. The chromos...
Autores principales: | Di Nora, Alessandra, Lena, Germana, Giugno, Andrea, Di Mari, Alessia, Smilari, Pierluigi, Minardi, Carmelo, Pavone, Piero |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Georg Thieme Verlag KG
2021
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8378915/ https://www.ncbi.nlm.nih.gov/pubmed/34430965 http://dx.doi.org/10.1055/s-0041-1729546 |
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