Associated Papers
A case of Baraitser-Winter cerebrofrontofacial syndrome diagnosed by whole-exome sequencing.
Suga K et al.
Human Genome Variation, 2025
Hearing Loss in Baraitser-Winter Syndrome: Case Reports and Review of the Literature.
Ghiselli S et al.
Journal of Clinical Medicine, 2024
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.
Valencia AM et al.
Nature Genetics, 2023
37500730 (PubMed )
Supplement: 41588_2023_1451_MOESM2_ESM.xlsx › SuppTable1Copied_230419
The First Korean Case of Baraitser-Winter Cerebro-Fronto-Facial Syndrome with a Novel Mutation in ACTB Diagnosed Via Targeted Gene Panel Sequencing and Literature Review.
Choi GJ et al.
Annals of Clinical and Laboratory Science, 2020
Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change? Two Novel Mutations and Literature Review.
Sandestig A et al.
Molecular Syndromology, 2019
Adenovirus ADP protein (E3-11.6K), which is required for efficient cell lysis and virus release, interacts with human MAD2B.
Ying B et al.
Virology, 2003
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