congenital contractural arachnodactyly

FBN2

A gene on chromosome 5q23-q31 that encodes fibrillin 2, a member of the fibrillin family of glycoproteins, which is a component of connective tissue microfibrils and involved in elastic fibre assembly.
Molecular pathology
FBN2 mutations cause congenital contractural arachnodactyly.

congenital contractural arachnodactyly

A rare autosomal dominant disease of connective tissue, structurally related to Marfan syndrome, in which people are born with arachnodactyly, multiple contractures of joints (such as the elbows, fingers, and knees), crumpled ear lobes, and severe kyphoscoliosis. Unlike patients with Marfan syndrome, patients with Beals syndrome do not have aortic abnormalities. Synonym: Beals-Hecht syndrome; Beals syndromeSee also: arachnodactyly

单词	congenital contractural arachnodactyly
释义	EncyclopediaSeearachnodactyly congenital contractural arachnodactyly FBN2 A gene on chromosome 5q23-q31 that encodes fibrillin 2, a member of the fibrillin family of glycoproteins, which is a component of connective tissue microfibrils and involved in elastic fibre assembly. Molecular pathology FBN2 mutations cause congenital contractural arachnodactyly. congenital contractural arachnodactyly A rare autosomal dominant disease of connective tissue, structurally related to Marfan syndrome, in which people are born with arachnodactyly, multiple contractures of joints (such as the elbows, fingers, and knees), crumpled ear lobes, and severe kyphoscoliosis. Unlike patients with Marfan syndrome, patients with Beals syndrome do not have aortic abnormalities. Synonym: Beals-Hecht syndrome; Beals syndromeSee also: arachnodactyly AcronymsSeeCCA
随便看	dcow dcowa dcoz d&cp dc&p dcp dcp2 dcp2 decapping enzyme homolog dcp3 dcpa dc pac dcpaes dcpaf dcpah dc parks and recreation dcpas dcpat dcpath dcpb dcpba dcpbh dcpbp dcpc dcpca dcpcf