E
E. Plöchl
Publications - 1
Citations - 208
E. Plöchl is an academic researcher. The author has contributed to research in topics: Brachydactyly. The author has an hindex of 1, co-authored 1 publications receiving 190 citations.
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Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III
H.-J. Lüdecke,J. Schaper,Peter Meinecke,P. Momeni,Stephanie Groß,D. von Holtum,H. Hirche,Marc Abramowicz,Beate Albrecht,C. Apacik,H.-J. Christen,Uwe Claussen,Koenraad Devriendt,E. Fastnacht,A. Forderer,Ursula Friedrich,Timothy H.J. Goodship,M. Greiwe,Henning Hamm,Raoul C.M. Hennekam,Georg Klaus Hinkel,Maria Hoeltzenbein,Hülya Kayserili,Frank Majewski,Michèle Mathieu,R. McLeod,Alina T. Midro,Ute Moog,Toshiro Nagai,Norio Niikawa,Karen Helene Ørstavik,E. Plöchl,Cornelia S. Seitz,Joerg Schmidtke,Lisbeth Tranebjærg,Masato Tsukahara,Bärbel Wittwer,Bernhard Zabel,Gabriele Gillessen-Kaesbach,B. Horsthemke +39 more
TL;DR: The data indicate that TRPS III is at the severe end of theTRPS spectrum and that it is most often caused by a specific class of mutations in the TRPS1 gene.