伴有严重心血管表现的先天性挛缩性蛛网膜畸形的 FBN2 致病变体

IF 2.8 4区医学 Q3 CELL BIOLOGY

Connective Tissue Research Pub Date : 2024-04-11 DOI:10.1080/03008207.2024.2340004

Shulin Yang, Zongzhe Li

引用次数: 0

摘要

先天性挛缩性蛛网膜挛缩症（CCA）是一种极其罕见的常染色体显性结缔组织遗传疾病，由 FBN2 的致病变体引起。CCA的特征是蛛网膜...

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FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations

Congenital contractural arachnodactyly (CCA) is an extremely rare autosomal dominant connective tissue genetic disorder caused by pathogenic variants in FBN2. CCA is characterized by arachnodactyly...

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来源期刊

Connective Tissue Research 生物-细胞生物学

CiteScore

6.60

自引率

3.40%

发文量

审稿时长

2 months

期刊介绍： The aim of Connective Tissue Research is to present original and significant research in all basic areas of connective tissue and matrix biology. The journal also provides topical reviews and, on occasion, the proceedings of conferences in areas of special interest at which original work is presented. The journal supports an interdisciplinary approach; we present a variety of perspectives from different disciplines, including Biochemistry Cell and Molecular Biology Immunology Structural Biology Biophysics Biomechanics Regenerative Medicine The interests of the Editorial Board are to understand, mechanistically, the structure-function relationships in connective tissue extracellular matrix, and its associated cells, through interpretation of sophisticated experimentation using state-of-the-art technologies that include molecular genetics, imaging, immunology, biomechanics and tissue engineering.