Sacral dimple as a skin manifestation of the Smith–Lemli–Opitz syndrome

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Bibliographic Details
Published inJournal of inherited metabolic disease Vol. 30; no. 2; pp. 269 - 270
Main Authors Bzduch, V., Behulova, D., Kozak, L.
Format Journal Article
LanguageEnglish
Published Dordrecht Kluwer Academic Publishers 01.04.2007
Springer
Blackwell Publishing Ltd
Subjects
Biological and medical sciences
Codon, Nonsense
Disorders of blood lipids. Hyperlipoproteinemia
Fatal Outcome
Female
Humans
Infant, Newborn
Medical genetics
Medical sciences
Metabolic diseases
Oxidoreductases Acting on CH-CH Group Donors - genetics
Sacrococcygeal Region
Skin - pathology
Smith-Lemli-Opitz Syndrome - genetics
Smith-Lemli-Opitz Syndrome - pathology
Nervous system diseases
Skin disease
Nutrition
Diseases of the osteoarticular system
Lipids
Metabolic diseases
Cholesterol
Genetic disease
Sacrum
Malformation
Hypocholesterolemia
Smith Lemli Opitz dwarfism
Digestive diseases
Genetics
Complex syndrome
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More Information
Bibliography:Communicating editor: Verena Peters
ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:0141-8955
1573-2665
DOI:10.1007/s10545-007-0564-4