Kniest dysplasia
id:
kniest-dysplasia-268-10826954
title:
Kniest dysplasia
text:
Kniest dysplasia is a rare form of dwarfism caused by a mutation in the COL2A1 gene on chromosome 12. The COL2A1 gene is responsible for producing type II collagen. The mutation of COL2A1 gene leads to abnormal skeletal growth and problems with hearing and vision. What characterizes Kniest dysplasia from other type II osteochondrodysplasia is the level of severity and the dumb-bell shape of shortened long tubular bones. This condition was first described by Dr. Wilhelm Kniest in 1952, publishing
brand slug:
wiki
category slug:
encyclopedia
description:
Human disease
original url:
https://en.wikipedia.org/wiki/Kniest_dysplasia
date created:
date modified:
2023-07-12T05:28:04Z
main entity:
{"identifier":"Q6422092","url":"https://www.wikidata.org/entity/Q6422092"}
image:
fields total:
13
integrity:
14