Publication
Title
Clinical and molecular studies of EXT1/EXT2 in Bulgaria
Author
Abstract
EXT1/EXT2-CDG (Multiple cartilagineous exostoses, hereditary multiple osteochondroma (MO); OMIM 133700/133701) are common defects of O-xylosylglycan glycosylation. The diagnostic criteria are at least two osteochondromas of the juxta-epiphyseal region of long bones with in the majority of cases a positive family history and/or mutation in one of the EXT genes. The authors report data on clinical symptoms and complications of 23 patients (from 16 families), discussing the family history, age of diagnosis, new clinical and molecular data. Fifteen mutations and large deletions, of which nine are new, were detected in the EXT1 and EXT2 gene by sequence analysis, FISH and MLPA analysis.
Language
English
Source (journal)
Journal of inherited metabolic disease. - Lancaster
Publication
Lancaster : 2011
ISSN
0141-8955
Volume/pages
34:4(2011), p. 917-921
ISI
000292829800010
Full text (Publisher's DOI)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 05.08.2011
Last edited 30.05.2017
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