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Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip–palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24)
P. Callier, L. Faivre, N. Marle, C. Thauvin-Robinet, A.L. Mosca, A. Masurel-Paulet, J. Borgnon, S. Falcon-Eicher, A. Danino, G. Malka, M. Le Merrer, F. Huet, F. MugneretVolume:
50
Year:
2007
Language:
english
Pages:
465
DOI:
10.1016/j.ejmg.2007.06.004
File:
PDF, 665 KB
english, 2007