Article
The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency.
The Journal of clinical endocrinology and metabolism - 1 Sept 1998
Cogan J D, Wu W, Phillips J A, Arnhold I J, Agapito A, Fofanova O V, Osorio M G, Bircan I, Moreno A, Mendonca B B
Abstract excerpt
Combined pituitary hormone deficiency (CPHD) has an incidence of approximately 1 in 8000 births. Although the proportion of familial CPHD cases is unknown, about 10% have an affected first degree relative. We have recently reported three mutations in the PROP1 gene that cause CPHD in human subjec...
Topics
- Alleles
- Base Composition
- Chromosome Mapping
- Chromosomes, Human, Pair 5
- Deoxyribonucleases, Type II Site-Specific
- Exons
- Gene Deletion
- Genotype
- Homeodomain Proteins
- Humans
- Microsatellite Repeats
- Pedigree
- Pituitary Hormones
- Polymerase Chain Reaction