Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome

Background: Smith-Lemli-Opitz syndrome (MIM 270400) is an autosomal recessive malformation and mental retardation syndrome that ranges in clinical severity from minimal dysmorphism and mild mental retardation to severe congenital anomalies and intrauterine death. Smith-Lemli-Opitz syndrome is caused...

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Bibliografische gegevens
Hoofdauteurs: Witsch-Baumgartne..., M, Gruber, M, Kraft, H, Rossi, M, Clayton, P, Giros, M, Haas, D, Kelley, R, Krajewska-Walasek, M, Utermann, G
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BMJ Group 2004
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Original Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735869/
https://ncbi.nlm.nih.gov/pubmed/15286151
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.018085
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