Identification of a novel mutation of the SHOX gene in a patient with Leri-Weill dyschondrosteosis accompanied by growth hormone deficiency

참고문헌 (7)

1. Binder G, "Short stature due to SHOX deficiency : genotype, phenotype, and therapy", Horm Res Paediatr, 75, pp.81~89 (2011)
2. Blaschke RJ, "SHOX : growth, Leri-Weill and Turner syndromes", Trends Endocrinol Metab, 11, pp.227~230 (2000)
3. "Leri-Weill dyschondrosteosis" (2020)[URL]
4. Blum WF, "GH treatment to final height produces similar height gains in patients with SHOX deficiency and Turner syndrome : results of a multicenter trial", J Clin Endocrinol Metab, 98, pp.E1383~E1392 (2013)
5. Scalco RC, "Effectiveness of the combined recombinant human growth hormone and gonadotropinreleasing hormone analog therapy in pubertal patients with short stature due to SHOX deficiency", J Clin Endocrinol Metab, 95, pp.328~332 (2010)
6. Benabbad I, "Safety outcomes and near-adult height gain of growth hormone-treated children with SHOX deficiency : data from an observational study and a clinical trial", Horm Res Paediatr, 87, pp.42~50 (2017)
7. Dunn JD, "Indications for recombinant human growth hormone and evaluation of available recombinant human growth hormone devices : implications for managed care organizations", Am J Manag Care, 17(Suppl 18), pp.eS16~eS22 (2011)

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