Microcephaly-Micromelia Syndrome

OBJECTIVE Col2a1 gene mutations cause premature degeneration of knee articular cartilage in disproportionate micromelia (Dmm) and… (More)

Dyssegmental dysplasia, Silverman-Handmaker type (DDSH), is a lethal autosomal recessive form of dwarfism with characteristic… (More)

Mice that are homozygous for the autosomal semidominant disproportionate micromelia (Dmm) mutation are characterized by… (More)

BACKGROUND Fetal mice homozygous for the Disproportionate micromelia (Dmm) gene were studied as a model for pulmonary hypoplasia… (More)

The severe lethal chondrodystrophies in man result in a common clinical syndrome including shortening of the face, mandible, and… (More)

The author made a report progress on micromelia symptom on the occasion of a 51 years old patient. It was ascertained that: 146… (More)