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TITLE: Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1  Full Text
AUTHORS: Juliette Piard; James Lespinasse; Marketa Vlckova; Martin A Mensah; Sorin Iurian; Martina Simandlova; Marcela Malikova; Oliver Bartsch; Massimiliano Rossi; Marion Lenoir; Frederique Nugues; Stefan Mundlos; Uwe Kornak; Philip Stanier; Sergio B Sousa; Lionel Van Maldergem;
PUBLISHED: 2018, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 176, ISSUE: 3
INDEXED IN: WOS
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TITLE: Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations
AUTHORS: Petra Dusatkova; Roland Pfaeffle; Milton R Brown; Natallia Akulevich; Ivo J P Arnhold; Maria A Kalina; Karolina Kot; Ciril Krzisnik; Manuel C Lemos; Jana Malikova; Ruta Navardauskaite; Barbora Obermannova; Zuzana Pribilincova; Agnes Sallai; Gordana Stipancic; Rasa Verkauskiene; Ondrej Cinek; Werner F Blum; John S Parks; Frederic Austerlitz; Jan Lebl; ...More
PUBLISHED: 2016, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 24, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 24