Hermansky Pudlak Syndrome Type 2:A Rare Case Report.
Article
| IMSEAR
| ID: sea-215672
ABSTRACT
Hermansky-Pudlak Syndrome (HPS) is a rareautosomal recessive disorder characterized byOculocutaneous Albinism (OCA), platelet disorder,and ceroid accumulation. It is common in North WestPuerto Rico region, and the incidence reported is1/500000. It is a rare genetic disorder with plateletdysfunction resulting in bleeding diathesis. Here wereport one such rare case of HPS type 2 in a 7-year-oldboy with difficulty in chewing.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Année:
2020
Type:
Article
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