Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells

The craniofacial developmental disorder Burn-McKeown Syndrome (BMKS) is caused by biallelic variants in the pre-messenger RNA splicing factor gene TXNL4A/DIB1. The majority of affected individuals with BMKS have a 34 base pair deletion in the promoter region of one allele of TXNL4A combined with a l...

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Detalles Bibliográficos
Autores principales: Wood, Katherine A., Rowlands, Charlie F., Thomas, Huw B., Woods, Steven, O’Flaherty, Julieta, Douzgou, Sofia, Kimber, Susan J., Newman, William G., O’Keefe, Raymond T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7394406/
https://www.ncbi.nlm.nih.gov/pubmed/32735620
http://dx.doi.org/10.1371/journal.pone.0233582

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