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Title: A Rare Case of Hermansky-Pudlak Syndrome
  • Pushpa Kini,
  • Aashna Bhatia,
  • Rukmoni Balasubramanian
Pushpa Kini
Kasturba Medical College Manipal
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Aashna Bhatia
Kasturba Medical College Manipal

Corresponding Author:[email protected]

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Rukmoni Balasubramanian
Kasturba Medical College Manipal
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Abstract

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterised by oculocutaneous albinism, a bleeding diathesis and platelet storage deficiency. The aim of this paper is to report a case of a patient with HPS who was followed over a decade. A 2-and-a-half-year-old boy presented with recurrent respiratory tract infections and