Two Novel FBN2 Variants Causing Congenital Contractural Arachnodactyly [PDF]
Genetics ResearchCongenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disease characterized by arachnodactyly, camptodactyly, multiple joint contractures, tall and slender habitus, crumpled ears, and scoliosis.
Juan Zhao +9 more
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FBN2 pathogenic mutation in congenital contractural arachnodactyly with severe skeletal manifestations [PDF]
Molecular Genetics and Metabolism ReportsBackground: Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant connective tissue disorder caused by mutations in the fibrillin-2 (FBN2) gene, characterized by crumpled ears, arachnodactyly, camptodactyly, dolichostenomelia, large ...
Yazhou Huang +6 more
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Missense variants of FBN2 associated with congenital arachnodactyly in three Chinese families [PDF]
Molecular Genetics and Metabolism ReportsBackground: Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant disorder caused by pathogenic variants of Fibrillin-2 (FBN2) gene. This study aimed to investigate the variants in three Chinese families with CCA.
Yu Sui +6 more
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A unique case report of Wildervanck syndrome in association with facial nerve paresis and arachnodactyly [PDF]
Oman Journal of OphthalmologyWildervanck syndrome, also called as cervico-oculo-acoustic syndrome. This is characterized by the triad of Klippel–Feil syndrome, Duane retraction syndrome, and congenital deafness.
P. Surekha +3 more
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Case Report: A novel variant in fibrillin-2 identified in a congenital contractural arachnodactyly family with phenotypic heterogeneity [PDF]
Frontiers in MedicineBackground and objectivesCongenital contractural arachnodactyly (CCA) is a rare autosomal dominant connective tissue disorder, and FBN2 is its only known causative gene.
Nan-Miao Wang +11 more
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Identification of Novel FBN2 Variants in a Cohort of Congenital Contractural Arachnodactyly
Frontiers in Genetics, 2022 Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant disorder of connective tissue characterized by crumpled ears, arachnodactyly, camptodactyly, large joint contracture, and kyphoscoliosis. The nature course of CCA has not been well-
Sen Zhao, Guixing Qiu, Wen Tian
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A Novel Splicing Mutation in the FBN2 Gene in a Family With Congenital Contractural Arachnodactyly
Frontiers in Genetics, 2020 Congenital contractural arachnodactyly (CCA) is an extremely rare monogenic disorder in humans, and the prevalence of CCA is estimated to be less than 1 in 10,000 worldwide.
Yuan Gao, Xu Peiwen, Sexin Huang
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Biallelic CPAMD8 variants in a patient with ectopia lentis associated with extraocular systemic features reminiscent of Marfan syndrome [PDF]
Human Genome VariationHere we report an 18-year-old male patient with bilateral ectopia lentis and biallelic CPAMD8 variants (NM_015692.5:c.[2801delG];[4552C>T]; NP_056507.3:p.[(Gly934GlufsTer64)];[(Gln1518Ter)]).
Daiju Oba +5 more
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Clinical Case Reports (discontinued), 2018 Key Clinical Message We identified a novel heterozygous mutation (c.4177T>G and p.Cys1393Gly) in FBN2 that cosegregated with congenital contractural arachnodactyly (CCA) in a five‐generation Chinese family.
Chengqi Xu
exaly +2 more sources
Heimler Syndrome With Tooth Agenesis, Abnormal Enamel and Dentin Mineralization, Root Maldevelopment, and PEX1 Mutation [PDF]
International Dental Journal: Biallelic variants in the PEX1 and PEX6 genes are implicated in Heimler syndrome, which is characterized by amelogenesis imperfecta, sensorineural hearing loss, retinitis pigmentosa, and nail defects.
Piranit N. Kantaputra +11 more
doaj +2 more sources