Research Review
Antenatal manifestations of Smith-Lemli-Opitz (RSH) syndrome: A retrospective survey of 30 cases
Article first published online: 18 AUG 2003
DOI: 10.1002/ajmg.a.20448
Copyright © 2003 Wiley-Liss, Inc.
Issue
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American Journal of Medical Genetics Part A
Volume 124A, Issue 4, pages 423–426, 1 February 2004
Additional Information
How to Cite
Goldenberg, A., Wolf, C., Chevy, F., Benachi, A., Dumez, Y., Munnich, A. and Cormier-Daire, V. (2004), Antenatal manifestations of Smith-Lemli-Opitz (RSH) syndrome: A retrospective survey of 30 cases. Am. J. Med. Genet., 124A: 423–426. doi: 10.1002/ajmg.a.20448
Publication History
- Issue published online: 14 JAN 2004
- Article first published online: 18 AUG 2003
- Manuscript Accepted: 27 MAY 2003
- Manuscript Received: 17 SEP 2002
- Abstract
- Article
- References
- Cited By
Cited in:
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This article has been cited by:
- 1, , , , Prenatal Presentation and Diagnostic Evaluation of Suspected Smith–Lemli–Opitz (RSH) Syndrome, American Journal of Medical Genetics Part A, 2013, 161, 5Direct Link:
- 2, , , , , , , , , , , , , , , , , , , , , , , , , Phenotypic spectrum of fetal Smith–Lemli–Opitz syndrome, European Journal of Medical Genetics, 2012, 55, 2, 81
- 3, , , , , , Signes d’appel anténataux des maladies héréditaires du métabolisme, Revue de médecine périnatale, 2012, 4, 4, 215
- 4, , Smith–Lemli–Opitz syndrome: Phenotype, natural history, and epidemiology, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2012, 160C, 4Direct Link:
- 5, , , , , Holoprosencephaly at prenatal diagnosis: analysis of 28 cases regarding etiopathogenic diagnoses, Prenatal Diagnosis, 2011, 31, 9Direct Link:
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- 8, , , , Approche de la dysmorphologie fœtale in utero, Gynécologie Obstétrique & Fertilité, 2010, 38, 11, 677
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- 12, , , , , Apport de l’échographie fœtale dans le diagnostic prénatal du syndrome de Smith–Lemli–Opitz, Gynécologie Obstétrique & Fertilité, 2008, 36, 5, 525
- 13, , Genetic syndromes and prenatally detected renal anomalies, Seminars in Fetal and Neonatal Medicine, 2008, 13, 3, 171
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- 15, , Échographie de dépistage du cœur fœtal : résultats pathologiques et pièges, EMC - Radiologie et imagerie médicale - Cardiovasculaire - Thoracique - Cervicale, 2007, 2, 4, 1
- 16, , , , , , , , , , Maternal urinary steroid profiles in prenatal diagnosis of Smith–Lemli–Opitz syndrome: first patient series comparing biochemical and molecular studies, Clinical Genetics, 2006, 69, 1Direct Link:
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- 18Current awareness in prenatal diagnosis, Prenatal Diagnosis, 2005, 25, 3Direct Link:
- 19, , , Sterol profiling of amniotic fluid: a routine method for the detection of distal cholesterol synthesis deficit, Prenatal Diagnosis, 2005, 25, 11Direct Link:
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