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孤立性生长激素缺乏症。两个具有常染色体显性遗传的家族。

Isolated growth hormone deficiency. Two families with autosomal dominant inheritance.

作者信息

Poskitt E M, Rayner P H

出版信息

Arch Dis Child. 1974 Jan;49(1):55-9. doi: 10.1136/adc.49.1.55.

DOI:10.1136/adc.49.1.55
PMID:4361890
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1648860/
Abstract

Two families, each with a father and a son affected by isolated growth hormone deficiency, are described. The inheritance in these cases seems to be due to an autosomal dominant gene. Isolated growth hormone deficiency appears to be a heterogeneous condition.

摘要

本文描述了两个家庭，每个家庭中均有父亲和儿子患有孤立性生长激素缺乏症。这些病例中的遗传现象似乎是由常染色体显性基因所致。孤立性生长激素缺乏症似乎是一种异质性病症。

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本文引用的文献

1
AN EVALUATION OF SEVENTY-FIVE PATIENTS WITH HYPOPITUITARISM BEGINNING IN CHILDHOOD.
Am J Med. 1965 Apr;38:484-98. doi: 10.1016/0002-9343(65)90127-0.
2
HEREDITARY PITUITARY DWARFISM TREATED WITH HUMAN GROWTH HORMONE.用人生长激素治疗遗传性垂体性侏儒症。
Acta Paediatr (Stockh). 1964 Nov;53:527-32. doi: 10.1111/j.1651-2227.1964.tb07264.x.
3
IMMUNOASSAY OF SERUM GROWTH HORMONE IN ACROMEGALIC PATIENTS.肢端肥大症患者血清生长激素的免疫测定
Br Med J. 1964 Nov 14;2(5419):1229-32. doi: 10.1136/bmj.2.5419.1229.
4
HYPOGLYCEMIA, GROWTH RETARDATION, AND PROBABLE ISOLATED GROWTH HORMONE DEFICIENCY IN A 1-YEAR-OLD CHILD.
J Pediatr. 1963 Nov;63:977-83. doi: 10.1016/s0022-3476(63)80229-2.
5
An inexpensive method for the estimation of true glucose in blood and other fluids by the Auto Analyzer.一种通过自动分析仪估算血液及其他体液中真实葡萄糖含量的廉价方法。
J Clin Pathol. 1963 Mar;16(2):170-2. doi: 10.1136/jcp.16.2.170-b.
6
Isolated human growth hormone deficiency. 3. Insulin secretion in sexual ateliotic dwarfism.孤立性人生长激素缺乏症。3. 性幼稚型侏儒症中的胰岛素分泌。
Metabolism. 1968 Nov;17(11):1005-11. doi: 10.1016/0026-0495(68)90006-1.
7
Genetic aspects of pituitary dwarfism due to absence or biological inactivity of growth hormone.
Isr J Med Sci. 1968 Jul-Aug;4(4):895-900.
8
Effect of human growth hormone treatment for 1 to 7 years on growth of 100 children, with growth hormone deficiency, low birthweight, inherited smallness, Turner's syndrome, and other complaints.对100名患有生长激素缺乏症、低出生体重、遗传性身材矮小、特纳综合征及其他病症的儿童进行1至7年生长激素治疗的效果
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Hereditary isolated somatotropin deficiency: effects of human growth hormone administration.遗传性孤立性生长激素缺乏症：生长激素给药的效果
Pediatrics. 1972 Mar;49(3):362-74.
10
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Nature. 1972 Jun 23;237(5356):433-9. doi: 10.1038/237433a0.