Hyperkeratotic cutaneous vascular malformation associated with familial cerebral cavernous malformations (FCCM) with KRIT1/CCM1 mutation.
Department of Dermatology.
Laurence
L
Feldmeyer
Department of Neurology, University Hospital Zürich, Gloriastrasse 31, 8091 Zürich, Switzerland.
Heide
H
Baumann-Vogel
Laboratoire de Cytogénétique, APHP Hôpital Lariboisière, Paris, France.
Elisabeth
E
Tournier-Lasserve
Laboratoire de Cytogénétique, APHP Hôpital Lariboisière, Paris, France.
Florence
F
Riant
Department of Neurology, University Hospital Zürich, Gloriastrasse 31, 8091 Zürich, Switzerland.
Hans H
HH
Jung
Department of Dermatology.
Lars E
LE
French
Department of Dermatology.
Jivko
J
Kamarashev
D000328:Adult; D020786:Hemangioma, Cavernous, Central Nervous System / Q000150:complications / Q000235:genetics*; D006801:Humans; D000075927:KRIT1 Protein; D007642:Keratosis / Q000150:complications / Q000235:genetics*; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D009154:Mutation; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D017445:Skin Diseases, Vascular / Q000150:complications / Q000235:genetics*
D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins