Publications
Export 3 results:
Author Title [ Year
] Filters: Author is Campeau, Philippe M and Keyword is Hand Deformities, Congenital [Clear All Filters]
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat 38, 1365-1371 (2017).
Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails. J Hum Genet 62, 465-471 (2017).
