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Case report: early aortic valve degeneration associated with interstitial deletion of chromosome 2–46,XX,del (2)(q31.3; q32.2)
BACKGROUND: Interstitial deletions within the long arm of chromosome 2, involving the 2q31q33 region, are rare but are known to be associated with delays in development, behavioral problems, facial dysmorphism and various hand/foot anomalies. CASE PRESENTATION: Here, we describe a case with an inter...
Autores principales: | Pfister, Raymond, Knowles, Clara, Kirsch, Matthias |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7175498/ https://www.ncbi.nlm.nih.gov/pubmed/32316992 http://dx.doi.org/10.1186/s13019-020-01104-3 |
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