Publications

Export 3 results:
Author Title [ Year(Desc)]
Filters: Author is Campeau, Philippe M and Keyword is Hand Deformities, Congenital  [Clear All Filters]
2014
Campeau, P. M. et al. The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol 13, 44-58 (2014).
2017
Marom, R. et al. Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat 38, 1365-1371 (2017).
Kariminejad, A. et al. Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails. J Hum Genet 62, 465-471 (2017).