Official websites use .gov
A
.gov website belongs to an official
government organization in the United States.
Secure .gov websites use HTTPS
A lock (
) or https:// means you've safely
connected to the .gov website. Share sensitive
information only on official, secure websites.
(a) Pedigree of the family. Affected subjects are denoted in black. DDI-3 is the proband. (b–d) DNA sequence chromatograms obtained from Sanger sequencing revealing normal status of (b) the c.84 + 1G > T mutation in the SMOC2 gene, (c) the IVS7 + 46C > G mutation in the VPS4B gene and (d) the c.353C > A mutation in the SSUH2 gene, in all three family members (DDI-1, DDI-2 and DDI-3). Mutation sites previously reported are indicated by blue arrows.
