Infantile-onset inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome: a case report

BACKGROUND: Hermansky-Pudlak syndrome (HPS) is a rare, genetically heterogeneous disorder that manifests oculocutaneous albinism together with bleeding diatheses that reflect a platelet storage pool deficiency. Ten genetic subtypes of this autosomal recessive condition have been described to date. S...

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Detalles Bibliográficos
Autores principales: Ishihara, Jun, Mizuochi, Tatsuki, Uchida, Takashi, Takaki, Yugo, Konishi, Ken-ichiro, Joo, Masahiko, Takahashi, Yasuhiko, Yoshioka, Shinichiro, Kusano, Hironori, Sasahara, Yoji, Yamashita, Yushiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6329123/
https://www.ncbi.nlm.nih.gov/pubmed/30634918
http://dx.doi.org/10.1186/s12876-019-0929-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6329123/
https://www.ncbi.nlm.nih.gov/pubmed/30634918
http://dx.doi.org/10.1186/s12876-019-0929-9

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