Article
Fumarase deficiency in dichorionic diamniotic twins.
Twin research and human genetics : the official journal of the International Society for Twin Studies - 1 Dec 2013
Tregoning Simone, Salter Wendy, Thorburn David R, Durkie Miranda, Panayi Maria, Wu Joyce Y, Easterbrook Aaron, Coman David J
Abstract excerpt
Fumarase deficiency is a rare autosomal recessive inborn error of metabolism of the Krebs Tricarboxylic Acid cycle. A heavy neurological disease burden is imparted by fumarase deficiency, commonly manifesting as microcephaly, dystonia, global developmental delay, seizures, and lethality in the infantile period. Heterozygous carriers also carry an increased risk of developing hereditary leiomyomatosis and renal...
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