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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...

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Detalles Bibliográficos
Autores principales: Pfister, Raymond, Knowles, Clara, Kirsch, Matthias
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
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