Isolated growth hormone deficiency type 1B is an autosomal recessive disorder caused by mutations of the genes that encode growth hormone or its receptor. The symptoms are less prominent compared with type 1A.
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Gondo RG et al. (2001) Growth hormone-releasing peptide-2 stimulates GH secretion in GH-deficient patients with mutated GH-releasing hormone receptor. |
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Menezes Oliveira JL et al. (2006) Lack of evidence of premature atherosclerosis in untreated severe isolated growth hormone (GH) deficiency due to a GH-releasing hormone receptor mutation. |
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Wajnrajch MP et al. (1996) Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse. |
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Leiberman E et al. (2000) Short stature in carriers of recessive mutation causing familial isolated growth hormone deficiency. |
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OMIM.ORG article Omim 612781 |