Hermansky ‐Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations
We describe two patients with HPS type 1 and review the updated gene‐based classification, clinical features, and recommendations for evaluation and follow‐up.
Source: Pediatric Dermatology - Category: Dermatology Authors: Manuela Loredana Asztalos, Kristian T. Schafernak, Jayla Gray, Adam Berry, Amy S. Paller, Anthony J. Mancini Tags: REVIEW ARTICLE Source Type: research