MUTATIONS IN THE EXT1 AND EXT2 GENES IN SPANISH PATIENTS WITH MULTIPLE OSTEOCHONDROMAS

Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the  formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively. We have undertaken a mutation analysis of the...

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Bibliographic Details
Main Author: P. Sarrión; A.Sangorrin; R. Urreizti ; A. Delgado ; R. Artuch ; L. Martorell ; J. Armstrong ; J, Anton; F.Torner ; M.A. Villaseca; J.Nevado ; P.Lapunzina ; C.G. Asteggiano; S. Balcells; D. Grinberg
Format: publishedVersion
Language:eng
Published: 2019
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Online Access:http://hdl.handle.net/11086/13439