Cowden’s Disease
Cowden’s Disease
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.
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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