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pro vyhledávání: '"Amin Makaov"'
Autor:
Elizabeth Timkovskaya, Amin Makaov, Lyudmila Mikhailova, Tatyana Vasilyeva, А. Marakhonov, Varvara Galkina, Sergey Kutsev, Rena Zinchenko
Publikováno v:
Medical news of the North Caucasus. 11
Metatropic dysplasia (MTD; OMIM #156530) is a rare spondyloepimetaphyseal dysplasia with autosomal dominant inheritance. Here we present the results of the clinical, radiological and molecular genetic diagnosis of MTD in a circassian girl with novel