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 The clinical exome report of the child that shows homozygous mutation in highly conserved area exon 3: c.352G > A p. Gly118R predicting a substitution of arginine for glycine in the PNPO gene.
b: Her parents report suggested they were heterozygous carriers of the same mutation.
