Letalna chondrodysplazja Blomstranda

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Blomstrand type chondrodysplasia (BOCD) - a rare, fatal genetic disease caused by mutations with loss of function in the parathormone-1 receptor (PTHR1) gene at the 3p22-p21.1 locus. Mutations that increase the function of this protein are responsible for the clinical picture of the Jansen-type chondrodysplasia (OMIM 156400). Inheritance is autosomal recessive. Children with lethal chondrodysplasia are born dead or dying shortly after birth.

The disease was first described in the Finnish newborn Blomstrand et al in 1985.

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