De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders

Recurrent somatic variants in SPOP are cancer specific; endometrial and prostate cancers result from gain-of-function and dominant-negative effects toward BET proteins, respectively. By using clinical exome sequencing, we identified six de novo pathogenic missense variants in SPOP in seven individua...

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Pubblicato in:Am J Hum Genet
Autori principali: Nabais Sá, Maria J., El Tekle, Geniver, de Brouwer, Arjan P.M., Sawyer, Sarah L., del Gaudio, Daniela, Parker, Michael J., Kanani, Farah, van den Boogaard, Marie-José H., van Gassen, Koen, Van Allen, Margot I., Wierenga, Klaas, Purcarin, Gabriela, Elias, Ellen Roy, Begtrup, Amber, Keller-Ramey, Jennifer, Bernasocchi, Tiziano, van de Wiel, Laurens, Gilissen, Christian, Venselaar, Hanka, Pfundt, Rolph, Vissers, Lisenka E.L.M., Theurillat, Jean-Philippe P., de Vries, Bert B.A.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2020
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7058825/
https://ncbi.nlm.nih.gov/pubmed/32109420
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2020.02.001
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