11 citations
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January 2013 in “Revista Brasileira De Terapia Intensiva” This article reports a case of rhabdomyolysis in a patient two hours after consuming the freshwater fish Mylossoma duriventre, suggesting a possible link to Haff disease from an unidentified toxin.
14 citations
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January 2018 in “Endocrine” This report describes a three-generation family with Cantú syndrome linked to a novel ABCC9 gene variant, featuring acromegaloid appearance and hypertrichosis without growth hormone abnormalities, and suggests a potential association with pituitary adenomas.
5 citations
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January 2017 in “Arquivos Brasileiros de Oftalmologia” This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.
