抄録
We document a Japanese girl who, without apparent growth hormone (GH)-l 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.
| 本文言語 | English |
|---|---|
| ページ（範囲） | 105-111 |
| ページ数 | 7 |
| ジャーナル | clinical pediatric endocrinology |
| 巻 | 3 |
| 号 | 2 |
| DOI | |
| 出版ステータス | Published - 1994 |
ASJC Scopus subject areas
- 小児科学、周産期医学および子どもの健康
- 内分泌学、糖尿病および代謝内科学
- 内分泌学
UN SDG
この成果は、次の持続可能な開発目標に貢献しています
