Chromosome Xp21 deletion syndrome
Definition:
References:
-
[1]. D R Sjarif, et al. Isolated and contiguous glycerol kinase gene disorders: a review. J Inherit Metab Dis. 2000 Sep;23(6):529-47. [Content Brief]
[2]. H-Hilger Ropers, et al. X-linked mental retardation. Nat Rev Genet. 2005 Jan;6(1):46-57. [Content Brief]
[3]. Lola Rahib, et al. Glycerol kinase deficiency alters expression of genes involved in lipid metabolism, carbohydrate metabolism, and insulin signaling. Eur J Hum Genet. 2007 Jun;15(6):646-57. [Content Brief]
[4]. Roger D Klein, et al. A multiplex assay for the detection and mapping of complex glycerol kinase deficiency. Clin Chem. 2006 Oct;52(10):1864-70. [Content Brief]