Familial growth hormone deficiency resulting from a 7.6 kb deletion within the growth hormone gene cluster
- 1 November 1986
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 25 (3) , 443-452
- https://doi.org/10.1002/ajmg.1320250306
Abstract
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.Keywords
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