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pro vyhledávání: '"М. М. Lokhmatov"'
Autor:
Е. А. Roslavtseva, Т. E. Borovik, Е. G. Tsimbalova, А. О. Anushenko, А. S. Potapov, М. М. Lokhmatov, I. L. Chashchina, М. D. Bakradze
Publikováno v:
Вопросы современной педиатрии, Vol 14, Iss 3, Pp 416-421 (2015)
Tricho-hepato-enteric syndrome (syndromic, phenotypic diarrhea, SD/THES) is a rare inborn disease, which affects bowels. It is caused by the mutation of genes SKIV2L or TTC37. Manifestations include intrauterine hypotrophy, severe chronic diarrhea, w
Externí odkaz:
https://doaj.org/article/64338c96cf0546b997e50b28f9330d76