Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing

Roifman Syndrome is a rare congenital disorder characterized by growth retardation, cognitive delay, spondyloepiphyseal dysplasia and antibody deficiency. Here we utilize whole-genome sequencing of Roifman Syndrome patients to reveal compound heterozygous rare variants that disrupt highly conserved...

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Publicado no:Nat Commun
Main Authors: Merico, Daniele, Roifman, Maian, Braunschweig, Ulrich, Yuen, Ryan K. C., Alexandrova, Roumiana, Bates, Andrea, Reid, Brenda, Nalpathamkalam, Thomas, Wang, Zhuozhi, Thiruvahindrapuram, Bhooma, Gray, Paul, Kakakios, Alyson, Peake, Jane, Hogarth, Stephanie, Manson, David, Buncic, Raymond, Pereira, Sergio L., Herbrick, Jo-Anne, Blencowe, Benjamin J., Roifman, Chaim M., Scherer, Stephen W.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Pub. Group 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4667643/
https://ncbi.nlm.nih.gov/pubmed/26522830
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms9718
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