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Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report.
BMC Med Genomics. 2018 Dec 27;11(1):124. doi: 10.1186/s12920-018-0441-z.
BMC Med Genomics. 2018.
PMID: 30587166
Free PMC article.
Phytosterolemia on the island of Kosrae: founder effect for a novel ABCG8 mutation results in high carrier rate and increased plasma plant sterol levels.
Sehayek E, Yu HJ, von Bergmann K, Lutjohann D, Stoffel M, Duncan EM, Garcia-Naveda L, Salit J, Blundell ML, Friedman JM, Breslow JL.
Sehayek E, et al. Among authors: garcia naveda l.
J Lipid Res. 2004 Sep;45(9):1608-13. doi: 10.1194/jlr.M400006-JLR200. Epub 2004 Jun 21.
J Lipid Res. 2004.
PMID: 15210841
Free article.
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