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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: BioMed Central 2014
विषय:
Case Report
ऑनलाइन पहुंच: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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