Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets-Reference-Cited by-同舟云学术

Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets

Published:2014-06-06 Issue:6 Volume:87 Page:570-575
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Cross J.L.¹,Iben J.¹,Simpson C.L.²,Thurm A.³,Swedo S.³,Tierney E.⁴,Bailey-Wilson J.E.²,Biesecker L.G.⁵,Porter F.D.¹,Wassif C.A.¹

Affiliation:

1. Program in Developmental Endocrinology and Genetics, Department of Health and Human Services; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health

2. Statistical Genetics Section, Computational and Statistical Genomics Branch, Department of Health and Human Services; National Human Genome Research Institute, National Institutes of Health

3. Pediatrics and Developmental Neuroscience Branch, Department of Health and Human Services; National Institute of Mental Health, National Institutes of Health; Bethesda MD 20892 USA

4. Department of Psychiatry; Kennedy Krieger Institute; Baltimore MD USA

5. Medical Genomics and Metabolic Genetics Branch, Department of Health and Human Services; National Human Genome Research Institute, National Institutes of Health; Bethesda MD 20892 USA

Funder

National Institute of Child Health and Human Development

Autism Speaks

National Institute of Mental Health

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference20 articles.

1. Malformation syndromes caused by disorders of cholesterol synthesis;Porter;J Lipid Res,2011

2. Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome;Battaile;Mol Genet Metab,2001