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GENATLAS PHENOTYPE

last update : 03-11-2009

Symbol	MFSV
Location	7q21.3
Name	Marfan syndrome variant
Corresponding gene	COL1A2
Main clinical features	equinovarus deformities of both feet at birth, arachnodactyly and lumbar scoliosis, aortic and mitral regurgitation with dilated root of the aorta , no lens dislocation, mild pectus carinatum as well as long slender limbs with increased mobility in all joints
Genetic determination
Function/system disorder	connective tissue
Type	disease

Gene product

Name	collagen type I, alpha 2 (COL1A2)

Remark(s)

R618Q substitution in COL1A2