✦ LIBER ✦
Familial growth hormone deficiency resulting from a 7.6 kb deletion within the growth hormone gene cluster
✍ Scribed by Braga, Suzanne ;Phillips, John A. ;Joss, Etienne ;Schwarz, Hanspeter ;Zuppinger, Klaus ;Opitz, John M. ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1986
- Tongue
- English
- Weight
- 608 KB
- Volume
- 25
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
We report on two sibs with familial isolated growth hormone deficiency (IGHD) resulting from homozygosity for a 7.6 kb deletion within the growth hormone gene cluster. The deletion not only affects the structural gene for growth hormone (GH-N) but also alters sequences adjacent to the chorionic somatomammotropin-like (CS-L) gene. In contrast to previously reported cases with IGHD type IA, our two patients responded well to growth hormone substitution and formation of blocking antibodies did not occur.