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Pseudohypoparathyroidism associated with cri du chat syndrome
The Medical Journal of Australia
|August 28, 1976
Summary
This case report details pseudohypoparathyroidism features alongside cri du chat syndrome. The findings suggest a potential chromosomal link, aiding in pinpointing the genetic cause of pseudohypoparathyroidism.
Area of Science:
- Genetics
- Endocrinology
- Pediatrics
Background:
- Pseudohypoparathyroidism is a genetic disorder characterized by resistance to parathyroid hormone.
- Cri du chat syndrome is a chromosomal disorder resulting from a deletion on the short arm of chromosome 5.