A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review

BACKGROUND: Distal chromosome 16 duplication syndrome (also known as 16q partial trisomy) is a very rare genetic disorder recently described in few clinical reports. 16q trisomy is generally associated with a multisystemic phenotype including intrauterine growth restriction (IUGR), brain and cardiac...

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Detalles Bibliográficos
Autores principales: Moschella, Antonino, Capra, Anna Paola, Corica, Domenico, Pepe, Giorgia, Di Tommaso, Silvia, Sallicandro, Ester, Wasniewska, Malgorzata G., Briuglia, Silvana, Aversa, Tommaso
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10696707/
https://www.ncbi.nlm.nih.gov/pubmed/38049856
http://dx.doi.org/10.1186/s12920-023-01716-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10696707/
https://www.ncbi.nlm.nih.gov/pubmed/38049856
http://dx.doi.org/10.1186/s12920-023-01716-3

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