Clinical and Genetic Analysis of Multiple Osteochondromas in a Cohort of Argentine Patients

Clinical and Genetic Analysis of Multiple Osteochondromas in a Cohort of Argentine Patients

Multiple Osteochondromatosis (MO, MIM 133700 & 133701), an autosomal dominant O-glycosylation disorder (EXT1/EXT2-CDG), can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature and pathogenic variants in two tumor suppressor genes, <i&g...

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Bibliographic Details
Main Authors: Silvia Caino, Marisa Angelica Cubilla, Romina Alba, María Gabriela Obregón, Virginia Fano, Abel Gómez, Lorena Zecchini, Pablo Lapunzina, Miriam Aza-Carmona, Karen E. Heath, Carla Gabriela Asteggiano
Format: Article
Language:English
Published: MDPI AG 2022-11-01
Series:Genes
Subjects:
osteochondroma
O-glycosylation disorders
multiple osteochondromatosis
multiple exostosis
EXT1/EXT2-CDG
Online Access:https://www.mdpi.com/2073-4425/13/11/2063

Internet

https://www.mdpi.com/2073-4425/13/11/2063

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