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pro vyhledávání: '"Katja M. Eckl"'
Autor:
Katja M. Eckl, Robert Gruber, Louise Brennan, Andrew Marriott, Roswitha Plank, Verena Moosbrugger-Martinz, Stefan Blunder, Anna Schossig, Janine Altmüller, Holger Thiele, Peter Nürnberg, Johannes Zschocke, Hans Christian Hennies, Matthias Schmuth
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Keratosis follicularis spinulosa decalvans (KFSD) is a rare cornification disorder with an X-linked recessive inheritance in most cases. Pathogenic variants causing X-linked KFSD have been described in MBTPS2, the gene for a membrane-bound zinc metal
Externí odkaz:
https://doaj.org/article/115b6a3d158f4d4b9e780b5eee8094b7
