Polytopic anomalies with agenesis of the lower vertebral column

Autor: Theda Voigtländer, David Viskochil, Hans Rudolf Wiedemann, Rosemarie Smith, John M. Opitz, Irene M. Van Langen, Nannette Okun, Michael Köpernik, Maurice Super, Axel Bohring, D. Ross McLeod, J. Stephen Bamforth, Raoul C.M. Hennekam, Peter Powell, John C. Carey, Olaf Rittinger, Norma Leonard, Stefan Mundlos, Hilda L. Gritter, Susan O. Lewin, Elaine H. Zackai, James F. Reynolds

Publikováno v: American Journal of Medical Genetics, 87(2), 99-114. WILEY-LISS
American journal of medical genetics, 87(2), 99-114. Wiley-Liss Inc.

We describe clinical, pathological and radiological findings in 15 cases of sporadic and familial lower spine agenesis with additional anomalies of the axial skeleton and internal organs and speculate about the cause and pathogenesis of this malforma

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::988943aea09fc404cf2b34b2f27ebed9
https://research.rug.nl/en/publications/ee07f048-4dba-4361-9d92-ec200e075f58