Associated Papers
Expanding the SIAH1-Associated Phenotypic Spectrum: Insights From Loss-of-Function Variants.
Douiev L et al.
American Journal of Medical Genetics. Part A, 2025
Novel SIAH1 Frameshift Variant in a Chilean Patient With Buratti-Harel Syndrome.
Nakousi C N et al.
Case Reports in Genetics, 2025
A novel variant in SIAH1 associated with autosomal dominant Buratti-Harel syndrome.
Zheng H et al.
Frontiers in Neuroscience, 2025
De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features.
Buratti J et al.
Journal of Medical Genetics, 2021
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