A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome

por Tentler, D., Gustavsson, P., Elinder, G., Eklof, O., Gordon, L., Mandel, A., Dahl, N.
Publicado 2000

Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity.

por Gustavsson, P, Garelli, E, Draptchinskaia, N, Ball, S, Willig, T N, Tentler, D, Dianzani, I, Punnett, H H, Shafer, F E, Cario, H, Ramenghi, U, Glomstein, A, Pfeiffer, R A, Goringe, A, Olivieri, N F, Smibert, E, Tchernia, G, Elinder, G, Dahl, N
Publicado 1998