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.
Identification of the novel CASK mutation. (A) results of Sanger sequencing. The proband was heterozygous status with c.755T>C mutation, but her parents were wild-type status. (B) functional domains of CASK. p.Leu252Pro mutation was in the CaMK domain of CASK. (C) conservation of the p.Leu252Pro mutation site in different species.
