The severe short stature in two siblings with a heterozygous IGF1 mutation is not caused by a dominant negative effect of the putative truncated protein
H.A. van Duyvenvoorde, J. van Doorn, J. Koenig, L. Gauguin, W. Oostdijk, J.D. Wade, M. Karperien, C.A.L. Ruivenkamp, M. Losekoot, P.A. van Setten, M.J.E. Walenkamp, C. Noordam, P. De Meyts, J.M. WitVolume:
21
Year:
2011
Language:
english
DOI:
10.1016/j.ghir.2010.12.004
File:
PDF, 570 KB
english, 2011