Hermansky-Pudlak syndrome is a rare autosomal recessive multisystem disease, with oculocutneous albinism, pulmonary fibrosis and bleeding diathesis. Here we report a case of Hermansky-Pudlak syndrome who presented with dyspnea, oculocutaneous albinism and nystagmus
Hermansky-Pudlak syndrome (HPS) is genetically heterogeneous, and mutations in seven genes have been...
The albinotic skin and hair of 2 patients with Hermansky-Pudlak syndrome were investigated by light ...
Hermansky-Pudlak syndrome (HPS) is a heterogeneous disorder combining oculocutaneous albinism (OCA) ...
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder, which results in oculocutane...
Objective. The aim of this paper is to report the case of a patient diagnosed with Hermansky-Pudlak ...
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneo...
Hermansky-Pudlak syndrome (HPS) is a rare form of syndromic oculocutaneous albinism caused by disord...
Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder, the most common complication of which in...
Hermansky-Pudlak syndrome (HPS) associates oculocutaneous albinism and systemic affections including...
PubMedID: 24284295Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive disorder presenting ...
Abstract Background Hermansky-Pudlak syndrome (HPS), a hereditary multisystem disorder with oculocut...
Abstract Background Determining the etiology of oculocutaneous albinism is important for proper clin...
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder which is characterised by the...
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive genetic disorder in which the proper funct...
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder caused by defects in 10 human...
Hermansky-Pudlak syndrome (HPS) is genetically heterogeneous, and mutations in seven genes have been...
The albinotic skin and hair of 2 patients with Hermansky-Pudlak syndrome were investigated by light ...
Hermansky-Pudlak syndrome (HPS) is a heterogeneous disorder combining oculocutaneous albinism (OCA) ...
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder, which results in oculocutane...
Objective. The aim of this paper is to report the case of a patient diagnosed with Hermansky-Pudlak ...
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneo...
Hermansky-Pudlak syndrome (HPS) is a rare form of syndromic oculocutaneous albinism caused by disord...
Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder, the most common complication of which in...
Hermansky-Pudlak syndrome (HPS) associates oculocutaneous albinism and systemic affections including...
PubMedID: 24284295Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive disorder presenting ...
Abstract Background Hermansky-Pudlak syndrome (HPS), a hereditary multisystem disorder with oculocut...
Abstract Background Determining the etiology of oculocutaneous albinism is important for proper clin...
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder which is characterised by the...
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive genetic disorder in which the proper funct...
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder caused by defects in 10 human...
Hermansky-Pudlak syndrome (HPS) is genetically heterogeneous, and mutations in seven genes have been...
The albinotic skin and hair of 2 patients with Hermansky-Pudlak syndrome were investigated by light ...
Hermansky-Pudlak syndrome (HPS) is a heterogeneous disorder combining oculocutaneous albinism (OCA) ...