VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome—case report and systematic review.

Autor: Kafol, Jan1 (AUTHOR), Gnidovec Strazisar, Barbara2,3 (AUTHOR), Drole Torkar, Ana1,4 (AUTHOR), Homan, Matjaz1,5 (AUTHOR), Bertok, Sara1,4 (AUTHOR), Mlinaric, Matej1,4 (AUTHOR), Sikonja, Jaka1,4 (AUTHOR), Kovač, Jernej1,6 (AUTHOR), Perkovic Benedik, Mirjana1,7 (AUTHOR), Kersnik Levart, Tanja1,8 (AUTHOR), Zerjav Tansek, Mojca1,4 (AUTHOR), Praprotnik, Marina1,9 (AUTHOR), Battelino, Tadej1,4 (AUTHOR), Debeljak, Maruša1,6 (AUTHOR), Groselj, Urh1,4 (AUTHOR) urh.groselj@gmail.com
Zdroj: Orphanet Journal of Rare Diseases. 12/30/2024, Vol. 19 Issue 1, p1-12. 12p.
Databáze: Academic Search Ultimate
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