Interstitial de novo 18q22.3q23 deletion: clinical, neuroradiological and molecular characterization of a new case and review of the literature

BACKGROUND: Deletions of the long arm of chromosome 18 cause a common autosomal syndrome clinically characterized by a protean clinical phenotype. CASE PRESENTATION: We report on a 16-month-old male infant affected by fever attacks apparently unrelated with any infectious or inflammatory symptoms, g...

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Detalles Bibliográficos
Autores principales: Tassano, Elisa, Severino, Mariasavina, Rosina, Silvia, Papa, Riccardo, Tortora, Domenico, Gimelli, Giorgio, Cuoco, Cristina, Picco, Paolo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5057431/
https://www.ncbi.nlm.nih.gov/pubmed/27766118
http://dx.doi.org/10.1186/s13039-016-0285-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5057431/
https://www.ncbi.nlm.nih.gov/pubmed/27766118
http://dx.doi.org/10.1186/s13039-016-0285-1

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