Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Marten Schouwink"'
Autor:
Luisa Averdunk, Maxim A Huetzen, Daniel Moreno-Andrés, Reinhard Kalb, Shane McKee, Tzung-Chien Hsieh, Annette Seibt, Marten Schouwink, Seema Lalani, Eissa Ali Faqeih, Theresa Brunet, Peter Boor, Kornelia Neveling, Alexander Hoischen, Barbara Hildebrandt, Elisabeth Graf, Linchao Lu, Weidong Jin, Joerg Schaper, Jamal A Omer, Tanguy Demaret, Nicole Fleischer, Detlev Schindler, Peter Krawitz, Ertan Mayatepek, Dagmar Wieczorek, Lisa L. Wang, Wolfram Antonin, Ron D. Jachimowicz, Verena von Felbert, Felix Distelmaier
PURPOSE: Rothmund-Thomson syndrome (RTS) is characterized by poikiloderma, sparse hair, small stature, skeletal defects, cancer, and cataracts, resembling features of premature aging. RECQL4 and ANAPC1 are the 2 known disease genes associated with RT
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e05d2ec608fae328825bb6405c3c0f72
https://doi.org/10.1016/j.gim.2023.100836
https://doi.org/10.1016/j.gim.2023.100836