Article
The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3.
Proceedings of the National Academy of Sciences of the United States of America - 29 Sept 1998
Jüppner H, Schipani E, Bastepe M, Cole D E, Lawson M L, Mannstadt M, Hendy G N, Plotkin H, Koshiyama H, Koh T, Crawford J D, Olsen B R, Vikkula M
Abstract excerpt
Hypocalcemia and hyperphosphatemia caused by parathyroid hormone (PTH)-resistance are the only discernible abnormalities in pseudohypoparathyroidism type Ib (PHP-Ib). Because mutations in the PTH/PTH-related peptide receptor, a plausible candidate gene, had been excluded previously, we conducted...
Topics
- Chromosome Mapping
- Chromosomes, Human, Pair 20
- Female
- GTP-Binding Proteins
- Genetic Linkage
- Genomic Imprinting
- Haplotypes
- Humans
- Hypocalcemia
- Lod Score
- Male
- Mutation
- Pedigree
- Pseudohypoparathyroidism