Kniest syndrome with dominant inheritance and mucopolysacchariduria.
Year: 1975
Type: article
Study design: Case Report
Abstract: A mother and daughter with clinical and radiographic findings typical of the Kniest syndrome are reported. It is apparent that this syndrome is dominantly inherited and that sporadic cases may represent fresh mutations. Abnormally high keratan sulfate excretion was found, indicating that the Kniest syndrome is a mucopolysacchariduria.
Source: Europe PMC (PubMed Central)
Authors: H J Kim, N G Beratis, P Brill, E Raab, K Hirschhorn, R Matalon
Institution: City University of New York
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W1429743808