Identification of a Novel Missense <i>FBN2</i> Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing - Fig 2

<p><b>(A) The phenotype and (B) X-ray images of hands from an affected member (IV:2) of the family</b>.</p

Clinical and genetic data of 7 patients with <i>FBN2</i> c.3769T>C (p.C1257R) mutation.

<p>Clinical and genetic data of 7 patients with <i>FBN2</i> c.3769T>C (p.C1257R) mutation.</p

Sequencing analysis of p.C1257R mutation in the <i>FBN2</i> gene (DNA).

<p>(A) Unaffected member (II:7) of the family. (B) Heterozygous p.C1257R mutation patient (III:4).</p