Microcephaly-Micromelia Syndrome
National Institutes of Health
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OBJECTIVE
Col2a1 gene mutations cause premature degeneration of knee articular cartilage in disproportionate micromelia (Dmm) and… Expand OBJECTIVE
Degeneration of articular cartilage leads to the development of osteoarthritis (OA), but the molecular pathology of the… Expand Dyssegmental dysplasia, Silverman-Handmaker type (DDSH), is a lethal autosomal recessive form of dwarfism with characteristic… Expand Mice that are homozygous for the autosomal semidominant disproportionate micromelia (Dmm) mutation are characterized by… Expand Background: Fetal mice homozygous for the Disproportionate micromelia (Dmm) gene were studied as a model for pulmonary hypoplasia… Expand The severe lethal chondrodystrophies in man result in a common clinical syndrome including shortening of the face, mandible, and… Expand The author made a report progress on micromelia symptom on the occasion of a 51 years old patient. It was ascertained that: 146… Expand