Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

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.

MeSH information
Definition  |  Details  |  More General Concepts  |  Related Concepts  |  More Specific Concepts
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.


publications
Timeline   |   Most Recent
This graph shows the total number of publications written about "Chondrodysplasia Punctata" by people in Harvard Catalyst Profiles by year, and whether "Chondrodysplasia Punctata" was a major or minor topic of these publication.
Bar chart showing 5 publications over 5 distinct years, with a maximum of 1 publications in 2004 and 2009 and 2010 and 2013 and 2022
To see the data from this visualization as text, click here.
Related Networks
People
Explore
_
Similar Concepts
_
Top Journals 
_
© 2024 President and Fellows of Harvard College
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.