FBN2 variants in patients with CCA

NIAID Data Ecosystem2026-03-13 收录

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https://data.mendeley.com/datasets/cxgcj3s8t3

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This dataset include 10 variants in 10 patients diagnosed with Congenital Contractural Arachnodactyly.

创建时间：

2021-10-29

FBN2 variants in patients with CCA

This dataset include 10 variants in 10 patients diagnosed with Congenital Contractural Arachnodactyly.

Mendeley Data2024-03-27 更新100

Table1_Identification of Novel FBN2 Variants in a Cohort of Congenital Contractural Arachnodactyly.pdf

Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant disorder of connective tissue characterized by crumpled ears, arachnodactyly, camptodactyly, large joint contracture, and kyph

NIAID Data Ecosystem30

Creatine kinase activities in blood samples from wildtype and Fbn2 null mice.

Mean +/- standard deviation for a given genotype and age is shown, except where only one animal was tested. N = number of animals tested. Units are nmol NADH/min/ml.

Figshare2015-12-03 更新10

Synergistic interaction between fbn2 and hmcn1 .

For more information see Table 1.

NIAID Data Ecosystem30

Abnormal Activation of BMP Signaling Causes Myopathy in Fbn2 Null Mice

Fibrillins are large extracellular macromolecules that polymerize to form the backbone structure of connective tissue microfibrils. Mutations in the gene for fibrillin-1 cause the Marfan syndrome, whi

Figshare2016-01-15 更新00