| Document Date: 2010-01-19 10:41:39
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City London / / Company Sonic / USA European Journal / Kraft / GE / / Continent Europe / / Country United States / / Currency pence / USD / / / Event Product Issues / / Facility National Institute of Child Health / terminus of DHCR7 / / / IndustryTerm metabolic products / e-pub / reported carrier frequencies / carrier frequencies / carrier status / Treatment of Smith-Lemli-Opitz syndrome / carrier frequency / pharmaceutical grade cholesterol / metabolic product / mutation carrier rates / mutation carrier frequencies / gas chromatography/mass spectrometry / / MedicalCondition microcephaly / JE / Syndactyly / cholesterol-deficiency diseases / corpus callosum Hypotonia Behavior Autism / autosomal recessive / multiple malformation syndrome / particularly cerebrotendinous xanthomatosis / holoprosencephaly / Smith-Lemli-Opitz/RSH syndrome / mild disorder / sterol biosynthesis disorders / lethal malformation syndrome / Smith-Lemli-Opitz Syndrome / cleft lip / Smith-LemliOpitz syndrome / MS / infections / autism spectrum disorders / typical autosomal recessive disorder / newly recognized syndrome / SmithLemli-Opitz syndrome / patent ductus arteriosus / pyloric stenosis / atrial and ventricular septal defects / SLO syndrome / cholesterol deficiency / autism / Niemann-Pick Disease / high cholesterol / malformation syndrome / colonic aganglionosis / cleft palate / RSH/Smith-Lemli-Opitz syndrome / polydactyly / deficiency / hypomorphic Smith-Lemli-Opitz syndrome / Opitz syndrome / RSH/Smith-LemliOpitz syndrome / disorders / fetal pads Syndactyly / Down syndrome / / MedicalTreatment nutritional support / counseling / / NaturalFeature British Isles / / Organization National Institute of Health / PRACTICAL GENETICS In association / National Institute of Child Health and Human Development / / Person Arch Biochem Biophys / Van Doormaal / / / Position Opitz syndrome FD Porter / FD Porter / Program on Developmental Endocrinology and Genetics / Peppelenbosch MP / Smith-LemliOpitz syndrome General / Major / Porter / / Product haloperidol / simvastatin / chorionic gonadotropin / cholesterol biosynthesis / response / / ProgrammingLanguage RC / / ProvinceOrState Maryland / / PublishedMedium European Journal of Human Genetics / / Region British Isles / Eastern Europe / Mediterranean / / Technology alpha / AV / X-ray / cloning / spectroscopy / Gas Chromatography / genotype / / URL www.nature.com/ejhg / /
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European Journal of Human Genetics[removed], 535–541 & 2008 Nature Publishing Group All rights reserved[removed] $30.00 www.nature.com/ejhg PRACTICAL GENETICS