GH Gene Deletions and IGHD type IA.

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作者信息

Moseley Chanda T, Orenstein Matthew D, Phillips John A

机构信息

Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee 37232-2578, USA.

出版信息

Rev Endocr Metab Disord. 2002 Dec;3(4):339-46. doi: 10.1023/a:1020953608174.

DOI:10.1023/a:1020953608174

PMID:12424435

Abstract

摘要

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GH Gene Deletions and IGHD type IA.

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Hum Genet. 1998 Jan;102(1):87-92. doi: 10.1007/s004390050658.

Prevalence of human GH-1 gene alterations in patients with isolated growth hormone deficiency.孤立性生长激素缺乏症患者中人类GH-1基因改变的患病率。

Pediatr Res. 1998 Jan;43(1):105-10. doi: 10.1203/00006450-199801000-00016.

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Is growth hormone deficiency a viable diagnosis?

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J Clin Endocrinol Metab. 1993 May;76(5):1224-8. doi: 10.1210/jcem.76.5.8496314.

A new mutation causing inherited growth hormone deficiency: a compound heterozygote of a 6.7 kb deletion and a two base deletion in the third exon of the GH-1 gene.一种导致遗传性生长激素缺乏的新突变：生长激素-1（GH-1）基因第三外显子上一个6.7kb缺失和一个双碱基缺失的复合杂合子。

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