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)
Titel:
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)
Auteur:
Callier, P. Faivre, L. Marle, N. Thauvin-Robinet, C. Mosca, A.L. Masurel-Paulet, A. Borgnon, J. Falcon-Eicher, S. Danino, A. Malka, G. Le Merrer, M. Huet, F. Mugneret, F.