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Blomstrand lethal osteochondrodysplasia

J G Leroy1, G Keersmaeckers, M Coppens

  • 1Department of Medical Genetics and Pediatrics, Ghent University School of Medicine, Belgium.

American Journal of Medical Genetics
|May 3, 1996
PubMed
Summary
This summary is machine-generated.

Blomstrand osteochondrodysplasia, a lethal skeletal disorder, is caused by a genetic defect disrupting chondrocyte multiplication and bone formation. Autosomal recessive inheritance is confirmed by family history and consanguinity.

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Area of Science:

  • Genetics
  • Skeletal Dysplasias
  • Developmental Biology

Background:

  • Blomstrand osteochondrodysplasia is a rare, lethal skeletal dysplasia.
  • Its genetic basis and specific pathological mechanisms remain largely unknown.