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Familial insertion (3;5)(q25.3;q22.1q31.3) with deletion or duplication of chromosome region 5q22.1-5q31.3 in ten unbalanced carriers.
Arens YH, Engelen JJ, Govaerts LC, van Ravenswaay CM, Loneus WH, van Lent-Albrechts JC, van der Blij-Philipsen M, Hamers AJ, Schrander-Stumpel CT. Arens YH, et al. Among authors: van ravenswaay cm. Am J Med Genet A. 2004 Oct 1;130A(2):128-33. doi: 10.1002/ajmg.a.20568. Am J Med Genet A. 2004. PMID: 15372532
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.
Lower KM, Turner G, Kerr BA, Mathews KD, Shaw MA, Gedeon AK, Schelley S, Hoyme HE, White SM, Delatycki MB, Lampe AK, Clayton-Smith J, Stewart H, van Ravenswaay CM, de Vries BB, Cox B, Grompe M, Ross S, Thomas P, Mulley JC, Gécz J. Lower KM, et al. Among authors: van ravenswaay cm. Nat Genet. 2002 Dec;32(4):661-5. doi: 10.1038/ng1040. Epub 2002 Nov 4. Nat Genet. 2002. PMID: 12415272
Spinal muscular atrophy combined with congenital heart disease: a report of two cases.
Mulleners WM, van Ravenswaay CM, Gabreëls FJ, Hamel BC, van Oort A, Sengers RC. Mulleners WM, et al. Among authors: van ravenswaay cm. Neuropediatrics. 1996 Dec;27(6):333-4. doi: 10.1055/s-2007-973805. Neuropediatrics. 1996. PMID: 9050054 No abstract available.
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