De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive

SON is a key component of the spliceosomal complex and a critical mediator of constitutive and alternative splicing. Additionally, SON has been shown to influence cell-cycle progression, genomic integrity, and maintenance of pluripotency in stem cell populations. The clear functional relevance of SO...

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Xehetasun bibliografikoak
Argitaratua izan da:Am J Hum Genet
Egile Nagusiak: Tokita, Mari J., Braxton, Alicia A., Shao, Yunru, Lewis, Andrea M., Vincent, Marie, Küry, Sébastien, Besnard, Thomas, Isidor, Bertrand, Latypova, Xénia, Bézieau, Stéphane, Liu, Pengfei, Motter, Connie S., Melver, Catherine Ward, Robin, Nathaniel H., Infante, Elena M., McGuire, Marianne, El-Gharbawy, Areeg, Littlejohn, Rebecca O., McLean, Scott D., Bi, Weimin, Bacino, Carlos A., Lalani, Seema R., Scott, Daryl A., Eng, Christine M., Yang, Yaping, Schaaf, Christian P., Walkiewicz, Magdalena A.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2016
Gaiak:
Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5011061/
https://ncbi.nlm.nih.gov/pubmed/27545676
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.06.035
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