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The rare inherited coagulation disorders
Pediatric Blood & Cancer, 2012AbstractThe rare inherited coagulation disorders (RICD) are uncommon and thus not well‐defined in terms of severity or management. Inheritance is autosomal; in some of these disorders in the heterozygote state affected individuals may be mildly symptomatic. Severe deficiencies are more common in association with consanguinity.
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A Rare Cause of Hemoptysis: Factitious Disorder
Southern Medical Journal, 2006Hemoptysis is an important symptom that requires broad evaluation, including invasive procedures. Nevertheless, in a considerable number of patients, the cause of hemoptysis may not be adequately determined despite extensive investigations. Factitious hemoptysis is a manifiestation of Munchausen syndrome that describes a group of patients who ...
Aslan, Selcuk +4 more
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The History of Rare Bleeding Disorders
Seminars in Thrombosis and HemostasisAbstractDeficiencies in coagulation factors I (FI), FII, FV, combined FV and FVIII (CF5F8) and vitamin K-dependent coagulation factors FVII, FX, FXI, and FXIII have been referred to as rare bleeding disorders (RBDs), rare coagulation factor deficiencies (RCFDs), or recessively inherited coagulation disorders. Fibrinogen was most likely the first member
Akbar, Dorgalaleh +11 more
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Congenital hair loss disorders: Rare, but not too rare
The Journal of Dermatology, 2011AbstractThe mammalian hair follicle (HF) is an active skin appendage which operates hair cycles throughout life. Recent advances in molecular genetics have led to the identification of many genes expressed in the HF. Furthermore, mutations in some of these genes have been shown to underlie congenital hair loss disorders in humans.
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Partnerships in rare disorders
The Journal of the American Dental Association, 2014Janice S, Lee +2 more
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Pandysautonomia - A rare disorder.
Manipal Journal of Nursing and Health SciencesPandysautonomia is an idiopathic, acute, or subacute autoimmune neuropathy, which diffusely affects the autonomic nervous system. A previously healthy 39-year-old woman, presented with a history of giddiness, pushing to one side while walking, and slurring of speech, and was diagnosed with pandysautonomia.
Leena Sequira +4 more
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