Associated Papers
Adams-Oliver Syndrome Type 3: A Case Report of Concurrent RBPJ, CACNA1A, and Double-Heterozygous MTHFR Variants.
Damian GC et al.
Diagnostics (basel, Switzerland), 2026
Defective Notch1 signaling in endothelial cells drives pathogenesis in a mouse model of Adams-Oliver syndrome.
Solano AF et al.
The Journal of Clinical Investigation, 2025
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
Meester JAN et al.
Human Mutation, 2018
RBPJ mutations identified in two families affected by Adams-Oliver syndrome.
Hassed SJ et al.
American Journal of Human Genetics, 2012
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