Isolated Growth Hormone Deficiency Type 1A without Apparent Growth Hormone 1 Gene Deletion
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概要
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We document a Japanese girl who, without apparent growth hormone (GH) -1 gene deletion, had a clinical phenotype identical to that of isolated growth hormone deficiency type 1A (IGHD-1A). The restriction fragment length polymorphism (RFLP) linkage analysis of the patient and her family members indicates that her GH-1 gene is structurally intact, though the molecular basis of her GH deficiency remains to be determined. We suspect that several congenital disorders other than GH-1 gene mutations may be responsible for IGHD-1A phenotype.
- 日本小児内分泌学会の論文
日本小児内分泌学会 | 論文
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