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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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Bibliografiske detaljer
Main Authors: Witsch-Baumgartne..., M, Gruber, M, Kraft, H, Rossi, M, Clayton, P, Giros, M, Haas, D, Kelley, R, Krajewska-Walasek, M, Utermann, G
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Group 2004
Fag:
Online adgang: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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