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skleróza tuberózna

Heslo	skleróza tuberózna
Heslo anglicky	Tuberous Sclerosis
Odkazy	Bournevilleov syndróm Bournevillov syndróm Bournevilleov-Pringleov syndróm Bournevillov-Pringleov syndróm Bournevilleova-Pringleova choroba Bournevillova-Pringleova choroba Bournevilleova choroba Bournevillova choroba epiloia Bournevilleova fakomatóza skleróza mozgová sclerosis tuberosa komplex tuberóznej sklerózy adenoma sebaceum skleróza cerebrálna
Angl. X odkazy	Bourneville Disease Epiloia Phakomatosis, Bourneville
Vysvetľujúca pozn. v angl.	Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.
Odkazy	(41) - ČLÁNKY
	(1) - heslo MeSH
	(8) - CiBaMed
	(4) - KNIHY

predmetové heslo

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