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

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 <i>POGZ</i> gene (MIM *6147...

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Bibliographic Details
Main Authors: Gabriele Trimarchi, Stefano Giuseppe Caraffi, Francesca Clementina Radio, Sabina Barresi, Gianluca Contrò, Simone Pizzi, Ilenia Maini, Marzia Pollazzon, Carlo Fusco, Silvia Sassi, Davide Nicoli, Manuela Napoli, Rosario Pascarella, Giancarlo Gargano, Orsetta Zuffardi, Marco Tartaglia, Livia Garavelli
Format: Article
Language:English
Published: MDPI AG 2021-06-01
Series:Genes
Subjects:
adducted thumb
peripheral polyneuropathy
<i>POGZ</i>
White–Sutton syndrome
Online Access:https://www.mdpi.com/2073-4425/12/7/950

Internet

https://www.mdpi.com/2073-4425/12/7/950

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