Loading...
Header Logo

Please contact mskhan2@childrensnational.org for any questions. Can't find your name in profiles ? Request a Profile

Keywords
Last Name
Institution

Chondrodysplasia Punctata

"Chondrodysplasia Punctata" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

expand / collapse MeSH information
A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.


expand / collapse publications
This graph shows the total number of publications written about "Chondrodysplasia Punctata" by people in this website by year, and whether "Chondrodysplasia Punctata" was a major or minor topic of these publications.
Bar chart showing 3 publications over 1 distinct years, with a maximum of 3 publications in 2008
To see the data from this visualization as text, click here.
People Expand Description
_
Similar Concepts expand description
_
Top Journals expand description