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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Detalhes bibliográficos
Publicado no:BMC Gastroenterol
Main Authors: Ishihara, Jun, Mizuochi, Tatsuki, Uchida, Takashi, Takaki, Yugo, Konishi, Ken-ichiro, Joo, Masahiko, Takahashi, Yasuhiko, Yoshioka, Shinichiro, Kusano, Hironori, Sasahara, Yoji, Yamashita, Yushiro
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6329123/
https://ncbi.nlm.nih.gov/pubmed/30634918
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12876-019-0929-9
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