Associated Papers
Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation.
Lin I et al.
Jci Insight, 2023
37053013 (PubMed )
Supplement: jciinsight-8-167744-s107.xlsx › Table_S1_Patient_
Clinical findings in 39 individuals with Bohring-Opitz syndrome from a global patient-driven registry with implications for tumor surveillance and recurrence risk.
Russell BE et al.
American Journal of Medical Genetics. Part A, 2023
Examining the neurodevelopmental and motor phenotypes of Bohring-Opitz syndrome (ASXL1) and Bainbridge-Ropers syndrome (ASXL3).
Ayoub MC et al.
Frontiers in Neuroscience, 2023
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