Hermansky Pudlak Syndrome Type 2:A Rare Case Report.

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dc.contributor.authorChhaparwal, Yogeshen_US
dc.contributor.authorKumar, Mathangien_US
dc.contributor.authorChhaparwal, Shubhaen_US
dc.date.accessioned2020-11-18T10:25:21Z
dc.date.available2020-11-18T10:25:21Z
dc.date.issued2020-07
dc.description.abstractHermansky-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.en_US
dc.identifier.affiliationsDepartment of Oral Medicine and Radiology, Manipal College of Dental Sciences, Manipal, Manipal Academy of Higher Education, Manipal 576104 (Karnataka), Indiaen_US
dc.identifier.affiliationsDepartment of Conservative Dentistry and Endodontics, Manipal College of Dental Sciences, Manipal, Manipal Academy of Higher Education, Manipal 576104 (Karnataka), Indiaen_US
dc.identifier.citationChhaparwal Yogesh, Kumar Mathangi, Chhaparwal Shubha. Hermansky Pudlak Syndrome Type 2:A Rare Case Report.. Journal of Krishna Institute of Medical Sciences University. 2020 Jul; 9(3): 97-101en_US
dc.identifier.issn2231-4261
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/215672
dc.languageenen_US
dc.publisherKrishna Institute of Medical Sciences Universityen_US
dc.relation.issuenumber3en_US
dc.relation.volume9en_US
dc.source.urihttps://www.jkimsu.com/jkimsu-vol9no3/JKIMSU,%20Vol.%209,%20No.%203,%20July-September%202020%20Page%2097-101.pdfen_US
dc.subjectoculocutaneous albinismen_US
dc.subjectHermansky Pudlak syndromeen_US
dc.subjectplatelet disorderen_US
dc.titleHermansky Pudlak Syndrome Type 2:A Rare Case Report.en_US
dc.typeJournal Articleen_US
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