| 1 | GH1, IGHD1, IGHD2
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| Genetics of isolated growth hormone deficiency.
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| Mullis PE.
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| J Clin Res Pediatr Endocrinol 2(2):52-62. Epub 2010 May 1. Review.
2010
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| 2 | GH1, IGHD2
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| A molecular basis for variation in clinical severity of isolated growth hormone deficiency type II.
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| Hamid R, Phillips JA 3rd, Holladay C, Cogan JD, Austin ED, Backeljauw PF, Travers SH, Patton JG.
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| J Clin Endocrinol Metab 94(12):4728-34. Epub 2009 Oct 16.
2009
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| 3 | ELF5, GH1, IGHD2, SRSF1, SRSF2
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| Growth hormone deficiency and splicing fidelity: two serine/arginine-rich proteins, ASF/SF2 and SC35, act antagonistically.
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| Solis AS, Peng R, Crawford JB, Phillips JA 3rd, Patton JG.
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| J Biol Chem 283(35):23619-26. Epub 2008 Jun 27. 2008
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| 4 | GH1, IGHD2
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| Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function.
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| Shariat N, Holladay CD, Cleary RK, Phillips JA 3rd, Patton JG.
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| Clin Genet 74(6):539-45. Epub 2008 Jun 11.
2008
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| 5 | GH1, IGHD2
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| Exon Splice Enhancer Mutation (GH-E32A) Causes Autosomal Dominant Growth Hormone Deficiency.
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| Petkovic V, Lochmatter D, Turton J, Clayton PE, Trainer PJ, Dattani MT, Ebl A, Robinson IC, Flck CE, Mullis PE.
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| J Clin Endocrinol Metab 92(11):4427-4435. Epub 2007 Aug 28. 2007
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| 6 | GH1, IGHD2
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| Exon splice enhancer mutation (GH-E32A) causes autosomal dominant growth hormone deficiency.
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| Petkovic V, Lochmatter D, Turton J, Clayton PE, Trainer PJ, Dattani MT, Eblé A, Robinson IC, Flück CE, Mullis PE.
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| J Clin Endocrinol Metab 92(11):4427-35. Epub 2007 Aug 28.PMID: 17726075 [PubMed - 2007
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| 7 | GH1, IGHD2
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| A novel deletion in the GH1 gene including the IVS3 branch site responsible for autosomal dominant isolated growth hormone deficiency.
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| Vivenza D, Guazzarotti L, Godi M, Frasca D, di Natale B, Momigliano-Richiardi P, Bona G, Giordano M.
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| J Clin Endocrinol Metab 91(3):980-6. Epub 2005 Dec 20. 2006
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| 8 | GH1, GHIS3, IGF1, IGF1D, IGHD1, IGHD2, STAT5B
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| Genetic disorders in the growth hormone - insulin-like growth factor-I axis.
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| Walenkamp MJ, Wit JM.
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| Horm Res 66(5):221-30. Review.
2006
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| 9 | GH1, IGHD2
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| Isolated autosomal dominant growth hormone deficiency: an evolving pituitary deficit? A multicenter follow-up study.
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| Mullis PE, Robinson IC, Salemi S, Eble A, Besson A, Vuissoz JM, Deladoey J, Simon D, Czernichow P, Binder G.
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| J Clin Endocrinol Metab 90(4):2089-96. Epub 2005 Jan 25. 2005
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| 10 | GH1, IGHD2
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| Familial growth hormone deficiency associated with MRI abnormalities.
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| Hamilton J, Chitayat D, Blaser S, Cohen LE, Phillips JA 3rd, Daneman D.
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| Am J Med Genet 80(2):128-32. 1998
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