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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Main Authors: Witsch-Baumgartne..., M, Gruber, M, Kraft, H, Rossi, M, Clayton, P, Giros, M, Haas, D, Kelley, R, Krajewska-Walasek, M, Utermann, G
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Group 2004
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Original Article
Acceso en liña: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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