Bruel, A-L, Bigoni, S, Kennedy, J, Whiteford, M, Buxton, C, Parmeggiani, G, Wherlock, M, Woodward, G, Greenslade, M, Williams, M, St-Onge, J, Ferlini, A, Garani, G, Ballardini, E, van Bon, BW, Acuna-Hidalgo, R, Bohring, A, Deleuze, J-F, Boland, A, Meyer, V, Olaso, R, Ginglinger, E, Riviere, J-B
, Brunner, HG, Hoischen, A, Newbury-Ecob, R, Faivre, L, Thauvin-Robinet, C, Thevenon, J & DDD Study 2017, '
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype',
Journal of Medical Genetics, vol. 54, no. 12, pp. 830-835.
https://doi.org/10.1136/jmedgenet-2017-104748