| 1 | DHCR24, DSMS
|
| Desmosterolosis and desmosterol homeostasis in the developing mouse brain.
|
| Allen LB, Genaro-Mattos TC, Porter NA, Mirnics K, Korade Z.
|
| J Inherit Metab Dis 42(5):934-943. doi: 10.1002/jimd.12088. Epub 2019 Apr 8.
2019
|
| 2 | DHCR24, DSMS
|
| Desmosterolosis presenting with multiple congenital anomalies.
|
| Rohanizadegan M, Sacharow S.
|
| Eur J Med Genet 61(3):152-156. doi: 10.1016/j.ejmg.2017.11.009. Epub 2017 Nov 23.
2018
|
| 3 | DHCR24, DSMS
|
| The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter.
|
| Zolotushko J, Flusser H, Markus B, Shelef I, Langer Y, Heverin M, Björkhem I, Sivan S, Birk OS.
|
| Eur J Hum Genet 19(9):942-6. doi: 10.1038/ejhg.2011.74. Epub 2011 May 11.
2011
|
| 4 | SLOS, CDPX2A, CHILD, HEMSK, DSMS, LTSL
|
| Recent insights into the Smith-Lemli-Opitz syndrome.
|
| Yu H, Patel SB.
|
| Clin Genet 68(5):383-91. 2005
|
| 5 | CYP51A1, DHCR24, EBP, DHCR7, DSMS, HEMSK, LBR, SC4MOL, SC5DL, SLOS
|
| Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes.
|
| Herman GE.
|
| Hum Mol Genet 12(Suppl 1):R75-88. 2003
|
| 6 | DHCR24, DSMS
|
| Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.
|
| Waterham HR, Koster J, Romeijn GJ, Hennekam RC, Vreken P, Andersson HC, FitzPatrick DR, Kelley RI, Wanders RJ.
|
| Am J Hum Genet 69(4):685-94. 2001
|
| 7 | EBP, DHCR24, DSMS
|
| Clinical phenotype of desmosterolosis.
|
| FitzPatrick DR, Keeling JW, Evans MJ, Kan AE, Bell JE, Porteous ME, Mills K, Winter RM, Clayton PT.
|
| Am J Med Genet 75(2):145-52. 1998
|