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GENATLAS PHENOTYPE

last update : 04-03-2009

Symbol	LDS1B
Location	3p24.1
Name	Loeys-Dietz syndrome, type 1B
Other name(s)	aortic aneurysm, familial thoracic 3
Corresponding gene	TGFBR2
Other symbol(s)	TAAD2, FTAA2, AAT3, FAA3, FTAA3, AD
Main clinical features	aortic dilatation/dissection, involving ascending aortic aneurysms leading to type A dissections
Genetic determination	autosomal dominant
Function/system disorder	cardiovascular
Type	disease

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
			hot-spot of mutation, R460 in the serine/threonine kinase domain

Remark(s)