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First published 2007-11

Identification of a Novel DHCR7 Mutation in a Korean Patient With Smith-Lemli-Opitz Syndrome

Jong Hee Chae, Ki Joong Kim, Yong Seung Hwang [...]

Journal of Child Neurology

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Case report

First published 2008-11

Prenatal Diagnosis of Smith–Lemli–Opitz Syndrome

Ultrasound

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Case report

First published 2006-4

A Case of Smith-Lemli-Opitz Syndrome,Defect of Cholesterol Biosynthesis

S. Domizio, R. Pallotta, A. Romanelli [...]

International Journal of Immunopathology and Pharmacology

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Research article

First published 2008-3

Precholesterol Sterols Accumulate in Lipid Rafts of Patients with Smith-Lemli-Opitz Syndrome and X-Linked Dominant Chondrodysplasia Punctata

Dinesh Rakheja, Richard L. Boriack

Pediatric and Developmental Pathology

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Research article

First published 1987-07

Computed Tomography of the Brain in the Smith-Lemli-Opitz Syndrome

Robert W. Marion, Luis A. Alvarez, Zvi S. Marans [...]

Journal of Child Neurology

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Research article

First published 2003-5

Biochemical Abnormality Associated with Smith-Lemli-Opitz Syndrome in an Infant with Features of Rutledge Multiple Congenital Anomaly Syndrome Confirms that the Latter is a Variant of the Former

Dinesh Rakheja, Golder N. Wilson, Beverly B. Rogers

Pediatric and Developmental Pathology

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Meeting report

First published 1969-9

Smith-Lemli-Opitz Syndrome

L Sinclair, M H Winterborn, Judith Brown

Journal of the Royal Society of Medicine

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Other

First published 2002-03

Assigning risk for Smith-Lemli-Opitz syndrome as part of 2nd trimester screening for Down's syndrome

Journal of Medical Screening

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Research article

First published 1977-07

The Smith-Lemli-Opitz Syndrome

Kamal F. Akl, Gabriel S. Khudr, Vazken M. Der Kaloustian [...]

Clinical Pediatrics

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Research article

First published 1999-1

A Simple PCR-Based Assay Allows Detection of a Common Mutation,IVS8-1G→C,in DHCR7 in Smith-Lemli-Opitz Syndrome

Kevin P. Battaile, Cheryl L. Maslen, Christopher A. Wassif [...]

Genetic Testing and Molecular Biomarkers

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