An MCA/MR syndrome with hypocholesterole
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Takaya Nakane; Hidemasa Hayashibe; Shinpei Nakazawa
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Article
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2005
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John Wiley and Sons
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English
β 67 KB
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## Abstract [Nguyen et al. (2003); Am J Med Genet 121A: 109β112] reported a boy with severe hypocholesterolemia due to autosomal dominant hypobetalipoproteinemia (ADBHL) associated with severe growth retardation, mental deficiency, epicanthal folds, a short nose with low nasal bridge and anteverted