Chondrodysplasia Blomstrand
Chondrodysplasia Blomstrand is a rare genetic disorder characterized by a mutation of the parathyroid hormone receptor, leading to the absence of a functional PTHR1. This condition causes abnormal ossification of the endocrine system and intermembranous tissues,[1] along with accelerated skeletal maturation.[2]
Chondrodysplasia Blomstrand | |
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Other names | Blomstrand's lethal chondrodysplasia |
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This condition is inherited in an autosomal recessive manner. |
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