Constitutional chromosomal events at 22q11 and 15q26 in a child with a pilocytic astrocytoma of the spinal cord

We report on a 9-years-old patient with mild intellectual disability, facial dimorphisms, bilateral semicircular canal dysplasia, periventricular nodular heterotopias, bilateral hippocampal malrotation and abnormal cerebellar foliation, who developed mild motor impairment and gait disorder due to a...

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Dades bibliogràfiques
Autors principals: Mascelli, Samantha, Severino, Mariasavina, Raso, Alessandro, Nozza, Paolo, Tassano, Elisa, Morana, Giovanni, De Marco, Patrizia, Merello, Elisa, Milanaccio, Claudia, Pavanello, Marco, Rossi, Andrea, Cama, Armando, Garrè, Maria Luisa, Capra, Valeria
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2014
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4032172/
https://ncbi.nlm.nih.gov/pubmed/24860619
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-7-31
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