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pro vyhledávání: '"Ya. S. Yugeno"'
Autor:
T. V. Markova, V. M. Kenis, S. S. Nikitin, E. V. Melchenko, T. S. Nagornova, D. V. Osipova, A. E. Alieva, Ya. S. Yugeno, E. Yu. Zakharova, E. L. Dadali
Publikováno v:
Нервно-мышечные болезни, Vol 12, Iss 2, Pp 37-46 (2022)
Background. Multiple epiphysal dysplasia (MED) type 1 (OMIM: 132400) is one of 7 genetic variants of this group of skeletal dysplasias described to date. The disease is caused by mutations in the COMP gene located on chromosome 19p13.1. The presence
Externí odkaz:
https://doaj.org/article/3e21228b2bc24db9bb3aecb71518e8be
