Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease. (Original Article)

Authors :: Balemans, W.
Patel, N.
Ebeling, M.
Hul, E. Van
Wuyts, W.
Lacza, C.
Dioszegi, M.
Dikkers, F.G.
Hildering, P.
Willems, P.J.
Verheij, J.B.G.M.
Lindpaintner, K.
Vickery, B.
Foernzler, D.
Hul, W. Van
Source :: Journal of Medical Genetics. February 2002, Vol. 39 Issue 2, p91, 7 p.
Publication Year :: 2002
Abstract: Van Buchem disease (MIM 239100) is a disorder of the skeleton inherited as an autosomal recessive trait which, according to Beighton, (1) belongs to the group of craniotubular hyperostoses. The [...]

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