Hermansky-Pudlak syndrome

Journal of Association of Physicians of India

Volumn 57, Issue 9, 2009, Pages

  Sen, Tiyas ^a   Mullerpattan, Jai ^a   Agarwal, Dipika ^a   Naphde, Deepak ^a   Deshpande, Ramesh ^a   Mahashur, Ashok A ^a  

^a P D HINDUJA NATIONAL HOSPITAL   (India)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; DIFFERENTIAL DIAGNOSIS; HUMAN; MALE; OCULAR ALBINISM; TUBERCULOSIS;

ADULT; DIAGNOSIS, DIFFERENTIAL; HERMANSKI-PUDLAK SYNDROME; HUMANS; MALE; TUBERCULOSIS;

EID: 70349519366     PISSN: 00045772     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (6)

1. Falcón-Pérez JM, Romero-Calderón R, Brooks ES, Krantz DE, Dell'Angelica EC. The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPs5). Traffic. 2007;8:154-68.
2. Nguyen T, Wei ML. Hermansky-Pudlak HPs1/pale ear gene regulates epidermal and dermal melanocyte development. J Invest Dermatol 2007;127:421-8.
3. Morgan NV, Pasha S, Johnson CA, Ainsworth JR, Eady RA, Dawood B, et al. A germline mutation in bLOC1s3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPs8). Am J Hum Genet 2006;78:160-6
4. Di Pietro SM, Falcón-Pérez JM, Tenza D, Setty SR, Marks MS, Raposo G, et al. bLOC-1 interacts with bLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes. Mol Boil Cell 2006;17:4027-38.
5. Jung J, Bohn G, Allroth A, Boztug K, Brandes G, Sandrock I, et al. Identification of a homozygous deletion in the AP3b1 gene causing Hermansky-Pudlak syndrome, type 2. Blood 2006;108:362-9.
6. Hazzan D, Seward S, Stock H, Zisman S, Gabriel K, Harpaz N, et al. Crohn's-like colitis, enterocolitis and perianal disease in Hermansky-Pudlak syndrome. Colorectal Dis 2006;8:539-43.