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Chondrodysplasia Blomstrand

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Chondrodysplasia Blomstrand (also known as Blomstrand's lethal chondrodysplasia) is a rare disorder caused by mutation of the parathyroid hormone receptor resulting in the absence of a functioning PTHR1. It results in ossification of the endocrine system and intermembraneous tissues and advanced skeletal maturation

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Chondrodysplasia Blomstrand Wikipedia


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