Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update-Reference-Cited by-同舟云学术

Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update

Published:2016-04-05 Issue:1 Volume:8 Page:
ISSN:1866-1947
Container-title:Journal of Neurodevelopmental Disorders
language:en
Short-container-title:J Neurodevelop Disord

Author:

Thurm Audrey,Tierney Elaine,Farmer Cristan,Albert Phebe,Joseph Lisa,Swedo Susan,Bianconi Simona,Bukelis Irena,Wheeler Courtney,Sarphare Geeta,Lanham Diane,Wassif Christopher A.,Porter Forbes D.

Funder

National Institute of Mental Health

National Center for Advancing Translational Sciences

Autism Speaks

National Institute of Child Health and Human Development

Publisher

Springer Science and Business Media LLC

Subject

Cognitive Neuroscience,Neurology (clinical),Pathology and Forensic Medicine,Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1186/s11689-016-9145-x.pdf

Reference39 articles.

1. Porter FD, Herman GE. Malformation syndromes caused by disorders of cholesterol synthesis. J Lipid Res. 2011;52(1):6–34.

2. Irons M, Elias ER, Salen G, Tint GS, Batta AK. Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet (London, England). 1993;341(8857):1414.

3. Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, et al. Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. Am J Hum Genet. 1998;63(1):55–62.

4. Cross JL, Iben J, Simpson CL, Thurm A, Swedo S, Tierney E, et al. Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets. Clin Genet. 2014.

5. Nowaczyk MJ, Irons MB. Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology. Am J Med Genet C: Semin Med Genet. 2012;160c(4):250–62.

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