Chondrodysplasia Blomstrand is a rare disorder caused by
mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, m ...
of the
parathyroid hormone receptor resulting in the absence of a functioning
PTHR1. It results in
ossification
Ossification (also called osteogenesis or bone mineralization) in bone remodeling is the process of laying down new bone material by cells named osteoblasts. It is synonymous with bone tissue formation. There are two processes resulting in ...
of the
endocrine system
The endocrine system is a messenger system comprising feedback loops of the hormones released by internal glands of an organism directly into the circulatory system, regulating distant target organs. In vertebrates, the hypothalamus is th ...
and intermembraneous tissues and advanced skeletal maturation.
References
External links
Endocrine diseases
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