Misaligned foveal morphology and sector retinal dysfunction in AKT1-mosaic Proteus syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Physiology (medical),Sensory Systems,Ophthalmology
Link
http://link.springer.com/content/pdf/10.1007/s10633-020-09778-9.pdf
Reference34 articles.
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2. Lindhurst MJ, Sapp JC, Teer JK, Johnston JJ, Finn EM, Peters K et al (2011) A mosaic activating mutation in AKT1 associated with the proteus syndrome. N Engl J Med 365(7):611–619. https://doi.org/10.1056/NEJMoa1104017
3. Biesecker LG, Happle R, Mulliken JB, Weksberg R, Graham JM Jr, Viljoen DL, Cohen MM Jr (1999) Proteus syndrome: diagnostic criteria, differential diagnosis and patient evaluation. Am J Med Genet 84(5):389–395. https://doi.org/10.1002/(sici)1096-8628(19990611)84:5%3c389:aid-ajmg1%3e3.0.co;2-o
4. Wee JS, Mortimer PS, Lindhurst MJ, Chong H, Biesecker LG, Holden CA (2014) A limited form of proteus syndrome with bilateral plantar cerebriform collagenomas and varicose veins secondary to a mosaic AKT1 mutation. JAMA Dermatol 150(9):990–993. https://doi.org/10.1001/jamadermatol.2013.10368
5. De Becker I, Gajda DJ, Gilbert-Barness E, Cohen MM Jr (2000) Ocular manifestations in proteus syndrome. Am J Med Genet 92(5):350–352. https://doi.org/10.1002/1096-8628(20000619)92:5%3c350:AID-AJMG11%3e3.0.CO;2-O
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