Associated Papers
Analysis of Treacher Collins syndrome 4-associated mutations in Schizosaccharomyces pombe.
Kawakami K et al.
Febs Open Bio, 2026
A Recurrent Variant in POLR1B, c.3007C>T; p.Arg1003Cys, Associated with Atresia of the External Canal and Microtia in Treacher Collins Syndrome Type 4.
Enomoto Y et al.
Molecular Syndromology, 2021
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.
Sanchez E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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