Fast Facts for Board Review

Pediatric Photosensitivity Disorders

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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

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