Anales de la RANM

253 A N A L E S R A N M R E V I S T A F U N D A D A E N 1 8 7 9 BASES MOLECULARES DEL HIPOCRECIMIENTO HUMANO Jesús Argente Oliver An RANM · Año 2018 · número 135 (03) · páginas 242 a 253 1. Pozo J, Argente J. Hipocrecimiento armónico. En: Cruz-Hernández M, ed. Tratado de Pediatría M. Cruz (10ª edición). Madrid: Ergon S.A., 2011; págs: 916-931. 2. Argente J, Pérez-Jurado LA. Genetic causes of proportionate short stature. Best Pract Res Clin Endocrinol Metab 2018; 32:499-522. 3. Argente J. Challenges in the management of short stature. Horm Res Paediatr 2016;85:2-10. 4. Rogol AD, Hayden GF: Etiologies and early diagnosis of short stature and growth failure in children and adolescents. J Pediatr 2014; 164(5 suppl):S1–S14.e6. 5. Allen DB, Cuttler L. Short stature in childhood challenges and choices. N Engl J Med 2013; 368:1220–1228. 6. Rosenfeld RG. Insulin-like growth factors and the basis of growth. N Engl J Med 2003; 349:2184-2186. 7. 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Bonafe L, Cormier-Daire V, Hall C, et al. Nosology and classification of genetic skeletal disorders: 2015 revision. Am J Med Genet A 2015; 167A(12):2869- 2892. 13. Benito-Sanz S, Thomas S, Huber C, et al. PAR1 deletions excluding the SHOX gene are found in Léri- Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS). Am J Hum Genet 2005; 77:533-544. 14. Benito-Sanz S, Gorbenko del Blanco D, Aza- Carmona M, et al. PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands. Hum Mut 2006; 10:1062-1062. 15. Benito-Sanz S, Barroso E, Heine-Suñer D, et al. Clinical and molecular evaluation of SHOX /PAR1 duplications in Léri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS). J Clin Endocrinol Metab 2011; 96: E404-E412. 16. Phillips JA III, Cogan JD. Genetic basis of endocrine disease 6: molecular basis of familial human growth hormone deficiency. J Clin Endocr Metab 1994; 78: 11-16. 17. Fang Q, George AS, Brinkmeier ML, et al. Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era. Endocr Rev 2016; 37: 636-675. 18. Giordano M. Genetic causes of isolated and combined pituitary hormone deficiency . Best Pract Res Clin Endocrinol Metab 2016; 30: 679-691. 19. Laron Z, Pertzelan A, Mannheimer S. Genetic pituitary dwarfism with high serum concentation of growth hormone--a new inborn error of metabolism? Isr J Med Sci 1966; 2:152-155. 20. Godowski PJ, Leung DW, Meacham LR, et al. Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron type dwarfism. Proc Natl Acad Sci USA 1989; 86:8083-8087. 21. Heath KE, Argente J, Barrios V, et al. Primary acid- labile subunit (ALS) deficiency due to recessive IGFALS mutations define a new form of postnatal growth deficit associated to low circulating IGF-I and IGFBP-3 levels, and hyperinsulinemia. J Clin Endocrinol Metab 2008; 93:1616-1624. 22. He H, Liyanarachchi S, Akagi K, et al. Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. Science 2001; 332: 238-240. 23. Edery P, Marcaillou C, Sahbatou M, et al. Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA. Science 2011; 332: 240-243. 24. Argente J, Flores R, Gutiérrez-Arumí A, et al. Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency. EMBO Mol Med 2014;6:299-306. 25. Dauber A, Muñoz-Calvo MT, Barrios V, et al. Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability. EMBO Mol Med 2016; 8:363-374. 26. Argente J, Chowen JÁ, Pérez-Jurado LA, Frystyk J, Oxvig C. One level up: abnormal proteolytic regulation of IGF activity plays a role in human pathophysiology. EMBO Mol Med 2017; doi: 10.15252/emmm.201707950. 27. Muñoz-Calvo MT, Barrios V, Pozo J, et al. Treatment with Recombinant Human Insulin-Like Growth Factor-1 Improves Growth in Patients With PAPP-A2 Deficiency. J Clin Endocrinol Metab 2016; 101: 3879–3883. BIBLIOGRAFÍA DECLARACIÓN DE TRANSPARENCIA El autor/a de este artículo declara no tener ningún tipo de conflicto de intereses respecto a lo expuesto en la presente revisión. Si desea citar nuestro artículo: Argente-Oliver J. Bases moleculares del hipocrecimiento humano ANALES RANM [Internet]. Real Academia Nacional de Medicina de España; An RANM · Año 2018 · número 135 (03) · páginas 242– 253 DOI: http://dx.doi.org/10.32440/ar.2018.135.03.rev06