Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Claudia Pünter"'
Autor:
Andrew G. Messenger, Heiko Traupe, Colin S. Munro, Henning Hamm, Claudia Pünter, S. Holmes, Eugene Healy, Jonathan L. Rees, Mark A. Birch-Machin, Bernhard P. Korge, Silke Darlington
Publikováno v:
The Journal of investigative dermatology. 111(5)
Monilethrix is an inherited hair dystrophy in which affected, fragile, hairs have an unique beaded morphology. Ultrastructural studies suggest a defect in filament structure in the cortex of the hair, and the hard keratins of hair and nail are thus c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::337918a5ca820e7e61c02b09b57df1a1
https://pubmed.ncbi.nlm.nih.gov/9804356
https://pubmed.ncbi.nlm.nih.gov/9804356
Autor:
Claudia Pünter, Colin S. Munro, Patricia J.C. Dopping-Hepenstal, Anthea Stephenson, Akemi Ishida-Yamamoto, Robin A.J. Eady, Hajime Iizuka, Bernhard P. Korge
Publikováno v:
Journal of Investigative Dermatology. (4):604-610
A mutation in the glycine-rich cornified envelope protein loricrin has recently been reported in Vohwinkel's keratoderma (honeycomb keratoderma with pseudoainhum), in a pedigree amongst whom ichthyosis was also a feature. We have studied two further
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2365cd3385e0f6f3117e3f6654d3e6b