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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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Bibliografiske detaljer
Udgivet i:Mol Cytogenet
Main Authors: Tassano, Elisa, Severino, Mariasavina, Rosina, Silvia, Papa, Riccardo, Tortora, Domenico, Gimelli, Giorgio, Cuoco, Cristina, Picco, Paolo
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2016
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5057431/
https://ncbi.nlm.nih.gov/pubmed/27766118
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-016-0285-1
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