BRAT1 Mutations Present with a Spectrum of Clinical Severity

Mutations in BRAT1, encoding BRCA1-associated ATM activator 1, are associated with a severe phenotype known as rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL; OMIM # 614498), characterized by intractable seizures, hypertonia, autonomic instability, and early death. We expand the ph...

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Dades bibliogràfiques
Publicat a:Am J Med Genet A
Autors principals: Srivastava, Siddharth, Olson, Heather E., Cohen, Julie S., Gubbels, Cynthia S., Lincoln, Sharyn, Davis, Brigette Tippin, Shahmirzadi, Layla, Gupta, Siddharth, Picker, Jonathan, Yu, Timothy W., Miller, David T., Soul, Janet S., Poretti, Andrea, Naidu, SakkuBai
Format: Artigo
Idioma:Inglês
Publicat: 2016
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5532882/
https://ncbi.nlm.nih.gov/pubmed/27282546
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37783
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