Fig 1.
Pedigree of the family with congenital contractural arachnodactyly showing affected cases (fully shaded).
N, Normal; M, the FBN2 c.3769T>C (p.C1257R) mutation. The arrow indicates the proband.
Fig 2.
(A) The phenotype and (B) X-ray images of hands from an affected member (IV:2) of the family.
Table 1.
Clinical and genetic data of 7 patients with FBN2 c.3769T>C (p.C1257R) mutation.
Fig 3.
Sequencing analysis of p.C1257R mutation in the FBN2 gene (DNA).
(A) Unaffected member (II:7) of the family. (B) Heterozygous p.C1257R mutation patient (III:4).
Fig 4.
Conservation analysis of FBN2 p.C1257 amino acid residue.