Abstract
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.
Original language | English |
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Pages (from-to) | 105-111 |
Number of pages | 7 |
Journal | clinical pediatric endocrinology |
Volume | 3 |
Issue number | 2 |
DOIs | |
Publication status | Published - 1994 |
Keywords
- growth hormone
- growth hormone-1 gene
- growth hormone-releasing factor gene
- isolated growth hormone deficiency type 1A
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Endocrinology, Diabetes and Metabolism
- Endocrinology