Isolated growth hormone deficiency
Definition:
References:
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[1]. B Duriez, et al. An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency. FEBS Lett. 1994 Jun 13;346(2-3):165-70. [Content Brief]
[2]. J A Phillips 3rd, et al. Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency. J Clin Endocrinol Metab. 1994 Jan;78(1):11-6. [Content Brief]
[3]. J D Cogan, et al. Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency. J Clin Endocrinol Metab. 1993 May;76(5):1224-8. [Content Brief]
[4]. Jesús Argente, et al. Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency. EMBO Mol Med. 2014 Mar;6(3):299-306. [Content Brief]
[5]. Libia M Hernández, et al. Isolated growth hormone deficiency. Pituitary. 2007;10(4):351-7. [Content Brief]
[6]. M P Wajnrajch, et al. Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse. Nat Genet. 1996 Jan;12(1):88-90. [Content Brief]
[7]. Ora Hess, et al. Variable phenotypes in familial isolated growth hormone deficiency caused by a G6664A mutation in the GH-1 gene. J Clin Endocrinol Metab. 2007 Nov;92(11):4387-93. [Content Brief]
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