Export 3 results:
Filters: Author is Marom, Ronit [Clear All Filters]
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat. 2017 ;38(10):1365-1371..
Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy. Am J Med Genet A. 2017 ;173(10):2789-2794..