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Letters to the Journal

Cutaneous freckling: Possible new clinical marker for the diagnosis of Hermansky-Pudlak syndrome in Indian Asian patients with oculocutaneous albinism

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References

  • Suzuki T, Li W, Zhang Q, et al. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nature Genet 2002;30:321–324
  • Hermansky F, Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood 1959;14:162–169.
  • Gahl WA, Huizing M. In: Pagon, RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2014. 24 July 2000 [updated 28 February 2013].
  • Sengupta M, Chaki M, Arti N, et al. SLC45A2 variations in Indian oculocutaneous albinism patients. Mol Vis 2007;13:1406–1411.
  • Vincent LM, Richard DA, Hessa A, et al. Hermansky-Pudlak syndrome type 1 in patients of Indian descent. Mol Genet Metab 2009;97:227–233.

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