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Alagillov syndróm

Heslo	Alagillov syndróm
Heslo anglicky	Alagille Syndrome
Odkazy	Alagilleho syndróm Alagilleov syndróm dysplázia hepatálnych artérií dysplázia artériohepatálna
Angl. X odkazy	Arteriohepatic Dysplasia Dysplasia, Arteriohepatic
Vysvetľujúca pozn. v angl.	A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2).
Odkazy	(3) - ČLÁNKY
	(1) - KNIHY

predmetové heslo

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