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E. Pasmant, A. Sabbagh, N. Hanna, J. Masliah-Planchon, E. Jolly, P. Goussard, P. Ballerini, F. Cartault, S. Barbarot, J. Landman-Parker, N. Soufir, B. Parfait, M. Vidaud, P. Wolkenstein, D. Vidaud, R. N. France: SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. In: Journal of Medical Genetics. Band 46, Nummer 7, Juli 2009, S. 425–430, doi:10.1136/jmg.2008.065243, PMID 19366998.
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ncbi.nlm.nih.gov
H. Brems, M. Chmara, M. Sahbatou, E. Denayer, K. Taniguchi, R. Kato, R. Somers, L. Messiaen, S. De Schepper, J. P. Fryns, J. Cools, P. Marynen, G. Thomas, A. Yoshimura, E. Legius: Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. In: Nature genetics. Band 39, Nummer 9, September 2007, S. 1120–1126, doi:10.1038/ng2113, PMID 17704776.
E. Pasmant, A. Sabbagh, N. Hanna, J. Masliah-Planchon, E. Jolly, P. Goussard, P. Ballerini, F. Cartault, S. Barbarot, J. Landman-Parker, N. Soufir, B. Parfait, M. Vidaud, P. Wolkenstein, D. Vidaud, R. N. France: SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. In: Journal of Medical Genetics. Band 46, Nummer 7, Juli 2009, S. 425–430, doi:10.1136/jmg.2008.065243, PMID 19366998.
