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Diseases

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Cowden’s disease   307


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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