Article
Accelerated Skeletal Maturation in Disorders of Retinoic Acid Metabolism: A Case Report and Focused Review of the Literature.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme - 1 Nov 2016
Nilsson O, Isoherranen N, Guo M H, Lui J C, Jee Y H, Guttmann-Bauman I, Acerini C, Lee W, Allikmets R, Yanovski J A, Dauber A, Baron J
Abstract excerpt
Nutritional excess of vitamin A, a precursor for retinoic acid (RA), causes premature epiphyseal fusion, craniosynostosis, and light-dependent retinopathy. Similarly, homozygous loss-of-function mutations in CYP26B1, one of the major RA-metabolizing enzymes, cause advanced bone age, premature epiphyseal fusion, and craniosynostosis. In this paper, a patient with markedly accelerated skeletal and dental...
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