Article
Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: Dwarfism of Sindh.
The Journal of clinical endocrinology and metabolism - 1 Nov 1998
Maheshwari H G, Silverman B L, Dupuis J, Baumann G
Abstract excerpt
We report, in detail, a new form of familial dwarfism, including its phenotypic features, hormonal profile, and molecular basis. Following a newspaper report of severe dwarfism in two villages in the province of Sindh, Pakistan, we organized an expedition to study its clinical, genetic, and molec...
Topics
- Adolescent
- Adult
- Anthropometry
- Child
- Child, Preschool
- Dwarfism, Pituitary
- Female
- Genetic Linkage
- Heterozygote
- Humans
- Infant
- Infant, Newborn
- Male
- Mutation
- Nutritional Status
- Pakistan
- Pedigree
- Phenotype