ArticleInternational journal of molecular sciences2017
Exome Sequencing Identified a Novel FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly.
Article in International journal of molecular sciences, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 13 citations in OpenAlex.
- A new treatment algorithmic for congenital contracture of the ulnar digits-based on pathological classification.JPRAS open · 2026Article
- Co-morbid monogenic disorders at chromosome region 1q2: LMNA- and FLG-related disorders in a patient referred for assessment of joint hypermobility.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2025Article
- FBN2 pathogenic mutation in congenital contractural arachnodactyly with severe skeletal manifestations.Molecular genetics and metabolism reports · 2025Article
- Identification of a HOXD13 variant in a Mongolian family with incomplete penetrance syndactyly by exon sequencing.BMC medical genomics · 2022Article
- Identification of key mutations in central nervous diffuse large B-cell lymphoma (DLBCL) by comprehensive analysis between sequencing and TCGA database.Translational cancer research · 2021Article
- Mutation analysis and prenatal diagnosis of a family with congenital contractural arachnodactyly.Molecular genetics & genomic medicine · 2021Article
- A Novel Splicing Mutation in theFrontiers in genetics · 2020Article
- A novelClinical case reports · 2018Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder of connective tissue. CCA is characterized by arachnodactyly, camptodactyly, contrature of major joints, scoliosis, pectus deformities, and crumpled ears. The present study aimed to identify the genetic cause of a three-generation Chinese family with CCA. We successfully identified a novel missense mutation p.G1145D in the fibrillin-2 (
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