Chondrodysplasia of Blomstrand type is a severe autosomal recessiv disorder caused by inactivating mutations of the PTHR1 gene. Patients die soon after birth and exhibit severe skeletal abnormalities.
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Hoogendam J et al. (2007) Novel mutations in the parathyroid hormone (PTH)/PTH-related peptide receptor type 1 causing Blomstrand osteochondrodysplasia types I and II. |
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Young ID et al. (1993) A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia? |
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den Hollander NS et al. (1997) First-trimester diagnosis of Blomstrand lethal osteochondrodysplasia. |
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OMIM.ORG article Omim 215045 |