Novel KRIT1/CCM1 mutation in a patient with retinal cavernous hemangioma and cerebral cavernous malformation.
Reddy
Shantan
S
NYU Langone Medical Center, 530 First Avenue, New York, NY 10016, USA. reddys02@gmail.com
Gorin
Michael B
MB
McCannel
Tara A
TA
Tsui
Irena
I
Straatsma
Bradley R
BR
D000328:Adult; D017089:Ankyrin Repeat / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D016368:Frameshift Mutation; D006392:Hemangioma, Cavernous / Q000235:genetics*; D020786:Hemangioma, Cavernous, Central Nervous System / Q000235:genetics*; D006801:Humans; D000075927:KRIT1 Protein; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D010375:Pedigree; D011518:Proto-Oncogene Proteins / Q000235:genetics*
D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins