Two Complex Cases of Hermansky-Pudlak Syndrome Highlight a Potential Biologic Explanation for an Associated Crohn’s Disease Phenotype

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and a lack of dense granules in platelets. HPS types 1 and 4 are associated with a granulomatous enterocolitis that is phenotypically indistinguishable from Crohn’s disease. We present two...

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Detalles Bibliográficos
Autores principales: Sofia, M. Anthony, Sakuraba, Atsushi, Rubin, David T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American College of Gastroenterology 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5247631/
https://www.ncbi.nlm.nih.gov/pubmed/28144619
http://dx.doi.org/10.14309/crj.2017.14

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5247631/
https://www.ncbi.nlm.nih.gov/pubmed/28144619
http://dx.doi.org/10.14309/crj.2017.14

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