Associated Papers
Beyond Neurodevelopmental Delay: BICRA-Related Coffin-Siris Syndrome 12 with Severe Intestinal Dysmotility and Recurrent Pneumothorax.
Wang H
Genes, 2026
A Novel Variant in the BICRA Gene, Expanding the Phenotype: A Case Report.
Kentros C et al.
Case Reports in Genetics, 2025
A de novo variant of BICRA results in Coffin-Siris syndrome 12.
Tu Y et al.
Molecular Genetics & Genomic Medicine, 2023
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.
Chen CA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
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