Whole-Exome Sequencing Reveals GPIHBP1 Mutations in Infantile Colitis With Severe Hypertriglyceridemia

Severe congenital hypertriglyceridemia (HTG) is a rare disorder caused by mutations in genes affecting lipoprotein lipase (LPL) activity. Here we report a 5-week-old Hispanic girl with severe HTG (12,031 mg/dL, normal limit 150 mg/dL) who presented with the unusual combination of lower gastrointesti...

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Huvudupphovsmän: Gonzaga-Jauregui, Claudia, Mir, Sabina, Penney, Samantha, Jhangiani, Shalini, Midgen, Craig, Finegold, Milton, Muzny, Donna M., Wang, Min, Bacino, Carlos A., Gibbs, Richard A., Lupski, James R., Kellermayer, Richard, Hanchard, Neil A.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2014
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4203304/
https://ncbi.nlm.nih.gov/pubmed/24614124
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MPG.0000000000000363
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