Shwachman-Diamond Syndrome: frequent misdiagnosis as Jeune Syndrome and other peculiarities by Corveleyn A, Bossuyt X, Bordon V, Vermylen C, Sevenants L, Haerynck F, Schaballie H, Meyts I, Uyttebroeck A, Renard M

Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings by Louw, J, Nunes Bastos, R, Chen, X, Verdood, C, Corveleyn, A, Jia, Y, Breckpot, J, Gewillig, M, Peeters, H, Santoro, M, Barr, F, Devriendt, K