Research graph
References from Recessive loss-of-function and dominant gain-of-function variants in FBXO31 are associated with distinct neurodevelopmental disorders. Local targets link to admitted publications; unresolved targets remain external evidence.
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Intellectual disability genomics: current state, pitfalls and future challenges
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Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome
10.1002/acn3.51335 · 2021 · External reference
Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome)
10.1111/cge.70166 · 2026 · External reference
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Macrocerebellum, epilepsy, intellectual disability, and gut malrotation in a child with a 16q24.1-q24.2 contiguous gene deletion
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Microdeletion of 16q24.1-q24.2-A unique etiology of Lymphedema-Distichiasis syndrome and neurodevelopmental disorder
10.1002/ajmg.a.62730 · 2022 · External reference
Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis
10.1186/s13023-022-02248-2 · 2022 · External reference
Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families
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