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.
Patient-1: ( A and B ) subtle dysmorphic features including a pointed nose, receding chin, and fine eyebrows. ( C ) Hyperpigmented macules over extensor aspect of the forearm and hand. ( D ) Old healed fracture (white curved arrow) in the right tibia. ( E ) Sanger's sequencing of variant (c.978_979delTCinsG) and the variant change position is shown with a red arrow.
