Harvard Catalyst Profiles

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

Edit functionality is currently unavailable.

Prader-Willi Syndrome

"Prader-Willi Syndrome" 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.

An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)


This graph shows the total number of publications written about "Prader-Willi Syndrome" by people in Harvard Catalyst Profiles by year, and whether "Prader-Willi Syndrome" was a major or minor topic of these publication.
Bar chart showing 47 publications over 23 distinct years, with a maximum of 5 publications in 1999
To see the data from this visualization as text, click here.
Related Networks
People
Explore
_
Similar Concepts
_
Top Journals 
_
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.