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A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome
Nager syndrome is a rare preaxial acrofacial dysostosis that is caused by heterozygous loss-of-function variants in SF3B4. This gene encodes for a protein required for the assembly of spliceosomal complexes, being a master gene for splicing regulation. The main clinical features of Nager syndrome in...
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| Publicado no: | Eur J Hum Genet |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5315512/ https://ncbi.nlm.nih.gov/pubmed/27966544 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.176 |
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