Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1. Ophthalmology. 2004; 111:1599-1603. [PubMed: 15288994]Tsilou ET, et al. Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1. ...
HPS2 小鼠中 AP - 3 的缺失,以及 HPS1 小鼠中 BLOC - 3 的缺失,会直接影响成纤维细胞的功能吗? 为了揭开这些谜团,费城儿童医院的研究人员在《Communications Biology》期刊上发表了一篇名为 “Single cell transcriptomics reveals age-dependent emergence of inflammatory fibroblasts in Hermansky-Pudlak syndrome mou...
HPS Hermansky-Pudlak Syndrome (type of albinism) HPS Hartford Public Schools (Hartford, CT) HPS Human Patient Simulator HPS Homelessness Partnering Strategy (Human Resources and Skills Development Canada) HPS Hemophagocytic Syndrome (immune system disorder) HPS Heart Protection Study HPS Hamilton Police ...
Hermansky-Pudlak Syndrome, Type 2 (OMIM #608233) This autosomal recessive condition is characterized by defective platelets (leading to a hemorrhagic diathesis), thrombocytopenia, and oculocutaneous albinism (see Chapter 20). Congenital neutropenia is a distinguishing feature of type 2 compared to o...
The child with HPS-3 had dark brown hair. A severe pigment defect is observed in four patients with OCA1, who had white hair (e-h) Full size image Fig. 3 Chest Imaging in Chinese Children with Hermansky-Pudlak Syndrome or Non-syndromic Oculocutaneous Albinism Type 1. Representative images...
mild bleeding disorder with epistaxis, easy bruising, hemoptysis, gingival bleeding, and postpartum bleeding; interstitial lung fibrosis; restrictive lung disease; granulomatous colitis Differential diagnosis Albinism ; Chediak-Higashi syndrome Therapy Avoidance of aspirin; low vision evaluation and rehabilitatio...
Hermansky–Pudlak syndrome (HPS) is a group of rare autosomal recessive disorders characterized by albinism and platelet dysfunction. A subset of HPS patients also develop highly penetrant pulmonary fibrosis, and some patients have a granulomatous coliti
Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases. Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder causing oculocutaneous albinism and a platelet storage pool deficiency, reflecting defec... CR Hermos,M Huiz...
Hermansky-Pudlak syndrome (HPS) types 1 and 4 are caused by defective vesicle trafficking. The mechanism for Crohn’s disease-like inflammation, lung fibrosis, and macrophage lipid accumulation in these patients remains enigmatic. The aim of this study i
Nonsense Mutations in ADTB3A Cause Complete Deficiency of the 3A Subunit of Adaptor Complex-3 and Severe Hermansky-Pudlak Syndrome Type 2 MARJAN HUIZING, CHARLES D. SCHER, ERIN STROVEL, DIANA L. FITZPATRICK, LISA M. HARTNELL, YAIR ANIKSTER, AND WILLIAM A. GAHL Section on Human ...