Osteochondrodysplasias pseudoachondroplasia celebrity

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Oligomerization results from formation of a five-stranded coiled coil and disulfide bonds. Binding to other ECM proteins such as collagen appears to depend on divalent cations. Mutations can cause the osteochondrodysplasias pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). COMP is a marker of cartilage turnover.

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Mutations can cause the osteochondrodysplasias pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). COMP is a marker of cartilage turnover. It is present in high quantities in fibrotic scars and systemic sclerosis, and it appears to have a role in vascular wall remodeling.

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Dominant Multiple Epiphyseal Dysplasia - NORD (National ...

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Pseudoachondroplasia is caused by a mutation in the same gene that causes dominant multiple epiphyseal dysplasia type 1 (allelic disorders). These disorders are part of a spectrum of disease involving the COMP gene. Pseudoachondroplasia is the severe end of the spectrum. Pseudoachondroplasia is inherited in an autosomal dominant manner.

Dominant Multiple Epiphyseal Dysplasia - NORD (National ...

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David L. Rimoin, Steven Spielberg Chair and Director of the Medical Genetics Institute at Cedars-Sinai Medical Center in Los Angeles, was best known for his work on the genetics of skeletal dysplasia, and for his pioneering recognition in 1967 that common diseases like diabetes mellitus were not single-gene phenotypes, but could result from any one of a group of genetic variations.

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