Incidental finding of APC deletion in a child: double trouble or double chance? – a case report

BACKGROUND: 22q11.2 deletion syndrome is one of the most common genomic disorders, characterized by the variable presence of facial dysmorphisms, congenital cardiac defects, velopharyngeal insufficiency/cleft palate, thymic hypoplasia/aplasia, immunodeficiency, parathyroid hypoplasia, developmental...

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Detalles Bibliográficos
Autores principales: Rosina, Erica, Rinaldi, Berardo, Silipigni, Rosamaria, Bergamaschi, Luca, Gattuso, Giovanna, Signoroni, Stefano, Guerneri, Silvana, Carnevali, Alessandra, Marchisio, Paola Giovanna, Milani, Donatella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7885235/
https://www.ncbi.nlm.nih.gov/pubmed/33588901
http://dx.doi.org/10.1186/s13052-021-00969-x

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