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Isolated growth hormone deficiency type 2

Isolated growth hormone deficiency type 2 is an autosomal dominant disorder caused by mutations of the GH1 gene. Clinically this disorder is characterized by growth retardation and delayed bone maturation. The disease can be managed by supplementation of growth hormone.

Systematic

Growth hormone deficiency
GH1
Growth hormone secretagogue resistance
Isolated growth hormone deficiency type 1A
Isolated growth hormone deficiency type 1B
Isolated growth hormone deficiency type 2
GH1
Isolated growth hormone deficiency type 3
Kowarski syndrome

References:

1.

Tani N et al. (1987) A family case with autosomal-dominantly inherited pituitary dwarfism.

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2.

Hamilton J et al. (1998) Familial growth hormone deficiency associated with MRI abnormalities.

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3.

Schober E et al. (1995) 18p monosomy with GH-deficiency and empty sella: good response to GH-treatment.

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4.

van Gelderen HH et al. (1981) Familial isolated growth hormone deficiency.

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5.

Butenandt O et al. (1970) [Familial hypopituitarism].

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6.

None (1972) Studies in high-deficient dwarfs: the type II anomaly.

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7.

Sheikholislam BM et al. (1972) Hereditary isolated somatotropin deficiency: effects of human growth hormone administration.

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8.

Poskitt EM et al. (1974) Isolated growth hormone deficiency. Two families with autosomal dominant inheritance.

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9.

Sadeghi-Nejad A et al. (1974) Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia (Rieger's syndrome).

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10.

Artman HG et al. (1992) 18p- syndrome and hypopituitarism.

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11.

WARKANY J et al. (1961) Intrauterine growth retardation.

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12.

Rona RJ et al. (1977) Aetiology of idiopathic growth hormone deficiency in England and Wales.

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13.

Rimoin DL et al. (1966) Growth-hormone deficiency in man: an isolated, recessively inherited defect.

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14.

Phillips JA et al. (1994) Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency.

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15.

Shariat N et al. (2008) 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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16.

Mullis PE et al. (2005) Isolated autosomal dominant growth hormone deficiency: an evolving pituitary deficit? A multicenter follow-up study.

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17.

OMIM.ORG article

Omim 173100 external link
Update: Aug. 14, 2020
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