Smith-Lemli-Opitz Syndrome

J Gordon Millichap

doi:10.15844/pedneurbriefs-12-9-1

Smith-Lemli-Opitz Syndrome

Pediatric Neurology Briefs

Volume 12 (1998): Issue 9

By: J Gordon Millichap

Open Access

|Sep 1998

Abstract

Two sibs, a male aged 3 years and female aged 7 months, with a variant of Smith-Lemli-Opitz (SLO) syndrome and atypical sterol metabolism are reported from the Kennedy Krieger Institute, Johns Hopkins University, Baltimore, MD.

References

Anderson AJ Stephan MJ Walker WO Kelley RI Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism Am J Med Genet 1998 Aug 6 78 5 413 78 10.1002/(SICI)1096-8628(19980806)78:5<;413::AID-AJMG4>3.0.CO;2-M 9714006
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Nowaczyk MJ Whelan DT Hill RE Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings Am J Med Genet 1998 Aug 6 78 5 419 23 10.1002/(SICI)1096-8628(19980806)78:5<;419::AID-AJMG5>3.0.CO;2-G 9714007
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Waterham HR Wijburg FA Hennekam RC Vreken P Poll-The BT Dorland L Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene Am J Hum Genet 1998 Aug 63 2 329 38 10.1086/301982 9683613
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-12-9-1 | Journal eISSN: 2166-6482

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Language: English

Page range: 65 - 65

Published on: Sep 1, 1998

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Smith-Lemli-Opitz,

Plasma Cholesterol,

7-Dehydrocholesterol

© 1998 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 12 (1998): Issue 9