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, EXT1 an...

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Detalles Bibliográficos
Autores principales: Caino, Silvia, Cubilla, Marisa Angelica, Alba, Romina, Obregón, María Gabriela, Fano, Virginia, Gómez, Abel, Zecchini, Lorena, Lapunzina, Pablo, Aza-Carmona, Miriam, Heath, Karen E., Asteggiano, Carla Gabriela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690389/
https://www.ncbi.nlm.nih.gov/pubmed/36360300
http://dx.doi.org/10.3390/genes13112063

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