Associated Papers
Hearing Loss in Baraitser-Winter Syndrome: Case Reports and Review of the Literature.
Ghiselli S et al.
Journal of Clinical Medicine, 2024
Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.
Mitchell CW et al.
The Journal of Biological Chemistry, 2022
35863433 (PubMed )
Supplement: mmc4.xlsx › _2_position
Identification of a De Novo Heterozygous Missense ACTB Variant in Baraitser-Winter Cerebrofrontofacial Syndrome.
Nie K et al.
Frontiers in Genetics, 2022
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
Child with cerebral malformations and epilepsy.
Sun Y et al.
The International Journal of Neuroscience, 2018
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