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pro vyhledávání: '"Mandy M.F. Meekels-Steinbusch"'
Autor:
Alzbeta Chabronova, Guus G.H. van den Akker, Mandy M.F. Meekels-Steinbusch, Franziska Friedrich, Andy Cremers, Don A.M. Surtel, Mandy J. Peffers, Lodewijk W. van Rhijn, Ekkehart Lausch, Bernhard Zabel, Marjolein M.J. Caron, Tim J.M. Welting
Publikováno v:
Non-coding RNA Research, Vol 6, Iss 4, Pp 211-224 (2021)
Mutations in the non-coding snoRNA component of mitochondrial RNA processing endoribonuclease (RMRP) are the cause of cartilage-hair hypoplasia (CHH). CHH is a rare form of metaphyseal chondrodysplasia characterized by disproportionate short stature
Externí odkaz:
https://doaj.org/article/d37c8f7d561c4191a6c92acb6d382bcf
