De novo mutation of the DHCR7 gene in a fetus with severe smith-lemli-opitz (or RSH) syndrome
- Author
- WAYE, John S1 2 ; ENG, Barry1 ; POTTER, Murray A1 2 ; NOWACZYK, Malgorzata J. M1 2 3 ; MCFADDEN, Deborah4 ; LANGLOIS, Sylvie5
[1] Hamilton Regional Laboratory Medicine Program, Hamilton, Ontario, Canada
[2] Department of Pathology & Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
[3] Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada
[4] Department of Pathology & Laboratory Medicine, Children's & Women's Health Centre of British Columbia, Vancouver, British Columbia, Canada
[5] Department of Medical Genetics, Children's & Women's Health Centre of British Columbia, Vancouver, British Columbia, Canada - Source
American journal of medical genetics. Part A. 2007, Vol 143, Num 15, pp 1799-1801, 3 p ; ref : 3/4 p
- Publisher
- Wiley-Liss, Hoboken, NJ
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Cholestérol De novo Foetus Grave Gène Lipide Mutation Nanisme Smith Lemli Opitz Appareil digestif pathologie Hypocholestérolémie Maladie héréditaire Malformation Métabolisme pathologie Syndrome complexe Système nerveux pathologie Système ostéoarticulaire pathologie
- Keyword (en)
- Cholesterol De novo Fetus Severe Gene Lipids Mutation Smith Lemli Opitz dwarfism Digestive diseases Hypocholesterolemia Genetic disease Malformation Metabolic diseases Complex syndrome Nervous system diseases Diseases of the osteoarticular system
- Keyword (es)
- Colesterol De novo Feto Grave Gen Lípido Mutación Enanismo Smith Lemli Opitz Aparato digestivo patología Hipocolesterolemia Enfermedad hereditaria Malformación Metabolismo patología Síndrome complejo Sistema nervioso patología Sistema osteoarticular patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22A Disorders of blood lipids. Hyperlipoproteinemia
- Discipline
- Medical genetics Metabolic diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 18985903
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1002/ajmg.a.31802 
https://dx.doi.org/10.1002/ajmg.a.31802
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