Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome: Case Report and Review of the Literature

One of the recently described syndromes emerging from the massive study of cohorts of undiagnosed patients with autism spectrum disorders (ASD) and syndromic intellectual disability (ID) is White–Sutton syndrome (WHSUS) (MIM #616364), caused by variants in the POGZ gene (MIM *614787), located on the...

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Dades bibliogràfiques
Publicat a:Genes (Basel)
Autors principals: Trimarchi, Gabriele, Caraffi, Stefano Giuseppe, Radio, Francesca Clementina, Barresi, Sabina, Contrò, Gianluca, Pizzi, Simone, Maini, Ilenia, Pollazzon, Marzia, Fusco, Carlo, Sassi, Silvia, Nicoli, Davide, Napoli, Manuela, Pascarella, Rosario, Gargano, Giancarlo, Zuffardi, Orsetta, Tartaglia, Marco, Garavelli, Livia
Format: Artigo
Idioma:Inglês
Publicat: MDPI 2021
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8303405/
https://ncbi.nlm.nih.gov/pubmed/34206215
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12070950
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