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The usual description of the Börjeson-Forssman-Lehmann syndrome (BFLS) is that of a rare, X-linked, partially dominant condition with severe intellectual disability, epilepsy, microcephaly, coarse… Continue Reading
HFE-associated hereditary haemochromatosis is a recessive, iron-overload disorder that affects about one in 200 north Europeans and that can be easily prevented. However, genetic screening for this… Continue Reading
Rett syndrome is a severe neurodevelopmental disorder generally affecting girls. Affected individuals are apparently normal at birth but later pass through a period of regression with loss of hand… Continue Reading
Background A study of pre-morbid lifestyle in 154 individuals in Australasia published in 2010 made two findings. Firstly, a passive lifestyle can be a preclinical expression of HD. Secondly, and… Continue Reading
References Peterson C, Hodler J. Adverse events from diagnostic and therapeutic joint injections: a literature review. Skeletal Radiol 2011; 40: 5–12. Malfair D. Therapeutic and diagnostic joint… Continue Reading