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Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1850-1855, August 2026.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi   +6 more
wiley   +1 more source

Low FXIII activity levels in patients with vascular anomalies, not in patients with trauma-induced coagulopathy. [PDF]

open access: yesPLoS One
Otsubo H   +13 more
europepmc   +1 more source

Snake venoms and coagulopathy

open access: yesToxicon, 2005
Snakebite affects around 2.5 million humans annually, with greater than 100,000 deaths. Coagulopathy is a significant cause of both morbidity and mortality in these patients, either directly, or indirectly.
Julian White
exaly   +2 more sources

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