Alteraciones genéticas e hipocrecimiento armónico

William H. Daughaday, William D. Salmon, A hormonally controlled serum factor which stimulates sulfate incorporation by cartilage in vitro. Journal of Laboratory and Clinical Medicine. ,vol. 116, pp. 408- 419 ,(1957) , 10.5555/URI:PII:0022214357900914

Z Laron, A Pertzelan, S Mannheimer, Genetic pituitary dwarfism with high serum concentation of growth hormone--a new inborn error of metabolism? Israel journal of medical sciences. ,vol. 2, pp. 152- 155 ,(1966)

K. E. Mayo, Structure and expression of growth hormone- releasing hormone (GHRH) genes Springer, Berlin, Heidelberg. pp. 217- 230 ,(1989) , 10.1007/978-3-662-11054-6_15

Comité Asesor de Vacunas de la Asociación Española de Pediatría, Calendario vacunal de la AEP 1999 Anales De Pediatria. ,vol. 51, pp. 120- 126 ,(1999)

P. Duquesnoy, M.L. Sobrier, B. Duriez, F. Dastot, C.R. Buchanan, M.O. Savage, M.A. Preece, C.T. Craescu, Y. Blouquit, M. Goossens, A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerization. The EMBO Journal. ,vol. 13, pp. 1386- 1395 ,(1994) , 10.1002/J.1460-2075.1994.TB06392.X

Wiggs Jl, Pralea Am, Cohen Js, Greff Lj, Phillips Jc, Haines Jl, del Bono Ea, A second locus for Rieger syndrome maps to chromosome 13q14 American Journal of Human Genetics. ,vol. 59, pp. 613- 619 ,(1996)

Irène Netchine, Marie-Laure Sobrier, Heiko Krude, Dirk Schnabel, Mohamed Maghnie, Elisabeth Marcos, Bénédicte Duriez, Valère Cacheux, Arpard v. Moers, Michel Goossens, Annette Grüters, Serge Amselem, Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency. Nature Genetics. ,vol. 25, pp. 182- 186 ,(2000) , 10.1038/76041

Johan P. de Winter, Quinten Waisfisz, Martin A. Rooimans, Carola G.M. van Berkel, Lucine Bosnoyan-Collins, Noa Alon, Madeleine Carreau, Olaf Bender, Ilja Demuth, Detlev Schindler, Jan C. Pronk, Fré Arwert, Holger Hoehn, Martin Digweed, Manuel Buchwald, Hans Joenje, The Fanconi anaemia group G gene FANCG is identical with XRCC9. Nature Genetics. ,vol. 20, pp. 281- 283 ,(1998) , 10.1038/3093

U. Francke, S. P. A. Toledo, J. Argente, A. Rosenbloom, L. Perez-Jurado, J. Guevara-Aguirre, R. Gracia, M. A. Berg, S. Chernausek, M. Hopp, Diverse growth hormone receptor gene mutations in Laron syndrome. American Journal of Human Genetics. ,vol. 52, pp. 998- 1005 ,(1993)

D H Ledbetter, A L Beaudet, J E Spence, W E O'Brien, R G Perciaccante, G M Greig, M S Pollack, J F Hejtmancik, H F Willard, Uniparental disomy as a mechanism for human genetic disease. American Journal of Human Genetics. ,vol. 42, pp. 217- 226 ,(1988)