Different pathogenic variants in the fibrillin‐1 gene (FBN1) cause Marfan syndrome and
acromelic dysplasias. Whereas the musculoskeletal features of Marfan syndrome involve tall …

Summary EMILIN1 (elastin-microfibril-interface-located-protein-1) is a structural component
of the elastic fiber network and localizes to the interface between the fibrillin microfibril …

Congenital contractural arachnodactyly (CCA) appears to comprise a broad phenotypic
spectrum. Classic CCA is characterized by arachnodactyly; flexion contractures of multiple …

Objective To examine whether rare damaging genetic variants are associated with
chromosomally normal pregnancy loss and estimate the magnitude of the association …

Arthrogryposis multiplex congenita (AMC) describes a group of conditions characterized by
the presence of non-progressive congenital contractures in multiple body areas. Scoliosis …

Background Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant
disorder caused by pathogenic variants of Fibrillin-2 (FBN2) gene. This study aimed to …

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

Abstract Fibrillin-2, encoded by FBN2, plays an important role in the early process of elastic
fiber assembly. To date, heterozygous pathogenic variants in FBN2 have been shown to …

A disease associated with malfunction of the MYH3 gene is characterised by scoliosis,
contractures of the V fingers, knees and elbows, dysplasia of the calf muscles, foot deformity …

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