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Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities.
Boudin E, de Jong TR, Prickett TCR, Lapauw B, Toye K, Van Hoof V, Luyckx I, Verstraeten A, Heymans HSA, Dulfer E, Van Laer L, Berry IR, Dobbie A, Blair E, Loeys B, Espiner EA, Wit JM, Van Hul W, Houpt P, Mortier GR. Boudin E, et al. Among authors: houpt p. Am J Hum Genet. 2018 Aug 2;103(2):288-295. doi: 10.1016/j.ajhg.2018.06.007. Epub 2018 Jul 19. Am J Hum Genet. 2018. PMID: 30032985 Free PMC article.
Delineation of a new fibrillin-2-opathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome.
Peeters S, Decramer A, Cain SA, Houpt P, Verstreken F, Noyez J, Hermans C, Jacobs W, Lammens M, Fransen E, Kumar AA, Vandeweyer G, Loeys B, Van Hul W, Baldock C, Boudin E, Mortier G. Peeters S, et al. Among authors: houpt p. J Med Genet. 2021 Nov;58(11):778-782. doi: 10.1136/jmedgenet-2020-107085. Epub 2020 Sep 8. J Med Genet. 2021. PMID: 32900841
A unique case of partial, radial-sided lunatomalacia.
Melenhorst WB, Maas M, Houpt P, Overgoor ML. Melenhorst WB, et al. Among authors: houpt p. J Hand Surg Eur Vol. 2010 Sep;35(7):586-8. doi: 10.1177/1753193409358524. J Hand Surg Eur Vol. 2010. PMID: 20719888 No abstract available.
31 results