PARK2 Microduplication: Clinical and Molecular Characterization of a Further Case and Review of the Literature

We report on a patient with psychomotor deficits, language delay, dyspraxia, skeletal anomalies, and facial dysmorphisms (hirsutism, right palpebral ptosis, a bulbous nasal tip with enlarged and anteverted nares, and a mild prominent antihelix stem). Using high-resolution SNP array analysis, we iden...

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Dades bibliogràfiques
Publicat a:Mol Syndromol
Autors principals: Palumbo, Orazio, Palumbo, Pietro, Leone, Maria P., Stallone, Raffaella, Palladino, Teresa, Vendemiale, Marcella, Palladino, Stefano, Papadia, Francesco, Carella, Massimo, Fischetto, Rira
Format: Artigo
Idioma:Inglês
Publicat: S. Karger AG 2016
Matèries:
Original Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5109987/
https://ncbi.nlm.nih.gov/pubmed/27867343
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000448852
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