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Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.
Cartault F, Munier P, Jacquemont ML, Vellayoudom J, Doray B, Payet C, Randrianaivo H, Laville JM, Munnich A, Cormier-Daire V. Cartault F, et al. Among authors: vellayoudom j. Eur J Hum Genet. 2015 Jan;23(1):49-53. doi: 10.1038/ejhg.2014.60. Epub 2014 Apr 23. Eur J Hum Genet. 2015. PMID: 24755949 Free PMC article.
Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy.
Cartault F, Munier P, Benko E, Desguerre I, Hanein S, Boddaert N, Bandiera S, Vellayoudom J, Krejbich-Trotot P, Bintner M, Hoarau JJ, Girard M, Génin E, de Lonlay P, Fourmaintraux A, Naville M, Rodriguez D, Feingold J, Renouil M, Munnich A, Westhof E, Fähling M, Lyonnet S, Henrion-Caude A. Cartault F, et al. Among authors: vellayoudom j. Proc Natl Acad Sci U S A. 2012 Mar 27;109(13):4980-5. doi: 10.1073/pnas.1111596109. Epub 2012 Mar 12. Proc Natl Acad Sci U S A. 2012. PMID: 22411793 Free PMC article.