Article
Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants.
American journal of medical genetics. Part A - 1 Nov 2024
Peduto Cristina, Cappuccio Gerarda, Zeuli Roberta, Zanobio Mariateresa, Torella Annalaura, Alkuraya Fowzan S, Joss Shelagh, Daolio Cecilia, Spinelli Alessandro Mauro, Zampieri Stefania, Nigro Vincenzo, Brunetti-Pierri Nicola
Abstract excerpt
Haploinsufficiency of FOXP1 gene is responsible for a neurodevelopmental disorder presenting with intellectual disability (ID), autism spectrum disorder (ASD), hypotonia, mild dysmorphic features, and multiple congenital anomalies. Joint contractures are not listed as a major feature of FOXP1-related disorder. We report five unrelated individuals, each harboring likely gene disruptive de novo FOXP1 variants or...
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