Figure 2.
Sanger Confirmation of Sequence Variants
(A) The c.457_459del mutation in Proband 1 (curly bracket) is de novo.
(B) The c.2080C>T mutation in Proband 2 (arrow) is de novo.
(C) The c.394C>T mutation in Proband 3 (arrow) is de novo.
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.