Associated Papers
Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis-A case report and review of literature.
Yaplito-Lee J et al.
Jimd Reports, 2020
Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties.
Anderson R et al.
Jimd Reports, 2019
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.
Trakadis YJ et al.
Bmc Medical Genomics, 2014
Lathosterolosis: a disorder of cholesterol biosynthesis resembling smith-lemli-opitz syndrome.
Ho AC et al.
Jimd Reports, 2014
Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.
Herman GE et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
Malformation syndromes caused by disorders of cholesterol synthesis.
Porter FD et al.
Journal of Lipid Research, 2011
Clinical phenotype of lathosterolosis.
Rossi M et al.
American Journal of Medical Genetics. Part A, 2007
Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes.
Herman GE
Human Molecular Genetics, 2003
Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase.
Brunetti-Pierri N et al.
American Journal of Human Genetics, 2002
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