Dr. Pathak is from Wake Forest University, Winston-Salem, North Carolina. Dr. De Luca is from Laser Skin Care Center, Long Beach, California.
The authors report no conflict of interest.
3. Which gene is mutated in a patient with a history of congenital acral blistering and then gradual onset of cutaneous atrophy and fragility, oral lesions, and photosensitivity?
a. DHCR7
b. KIND1
c. RECQL4
d. SLC6A19
e. XPD