Cowden’s Disease 343d33d 343d33d 343d33d 343d33d 343d33d 343d33d 343d33d 343d33d 343d33d 343d33d 343d33d 343d33d 343d33d 343d33d 343d33d 343d33d 343d33d 343d33d 343d33d 343d33d 343d33d 343d33d 343d33d 343d33d 343d33d 343d33d 343d33d 343d33d 343d33d 343d33d 343d33d 343d33d 343d33d 307
General: Autosomal dominant; PTNE gene; tumor suppressor gene
Ocular: Cataract; angoid streaks; myopia; multiple trichilemmomas of eyelids
Clinical: Malignancies of breast, thyroid, ovary, uterus, colon or bladder; seizures; tremor; mental retardation; cerebellar gangliocytoma
Kiratli H, Sonmez B, Bilgic S, et al. Multiple astrocytic hamartoas in bilateral retina. Can J Ophthalmo. 2004; 39: 662-3
Sawada T, Okada T, Miwa K, et al. Two novel mutations of PTEN gene in Japanese patients with Cowden’s disease. Am J Genet A 2004; 128: 12-4.
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