Clinical variability at the mild end of BRAT1-related spectrum: evidence from two families with genotype-phenotype discordance.
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DOI: 10.1002/humu.24293
Abstract: Biallelic mutations in the BRAT1 gene, encoding BRCA1-associated ATM activator 1, result in variable phenotypes, from rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL) to neurodevelopmental disorder and cerebellar atrophy with or without seizures (NEDCAS),… read more here.
Keywords: clinical variability; brat1 related; genotype phenotype; two families ... See more keywords