Harvard Catalyst Profiles

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

Pycnodysostosis

"Pycnodysostosis" 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
Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and MAXILLOFACIAL ABNORMALITIES and an increase in bone density that results in frequent BONE FRACTURES. It is associated with BONE RESORPTION defect due to mutations in the lysosomal cysteine protease CATHEPSIN K.


publications
Timeline   |   Most Recent
This graph shows the total number of publications written about "Pycnodysostosis" by people in Harvard Catalyst Profiles by year, and whether "Pycnodysostosis" was a major or minor topic of these publication.
To see the data from this visualization as text,
Related Networks
_
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.