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pubmed-article:15824861pubmed:abstractTextGain-of-function mutation in the gene encoding LRP5 causes high bone mass. A 59-year-old woman carrying a novel LRP5 missense mutation, Arg154Met, manifested skeletal disease affecting her oropharynx as well as dense bones, showing that exuberant LRP5 effects are not always benign.lld:pubmed
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pubmed-article:15824861pubmed:articleTitleOropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation.lld:pubmed
pubmed-article:15824861pubmed:affiliationDivision of Endocrinology, Diabetes and Metabolism, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.lld:pubmed
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