Mutations in the pre-replication complex cause Meier-Gorlin syndrome

Autor: Hans van Bokhoven, John M. Opitz, Andrea Leitch, Stephen Brown, Jumana Y. Al-Aama, Michael B. Bober, Paul A.J. Brown, Salim Aftimos, Annick Toutain, Murray Feingold, Andrew P. Jackson, Jeroen Schoots, Ernie M.H.F. Bongers, John Dean, Alison Ross, Margaret E. Harley, I. Karen Temple, Michael Wright, Lies H. Hoefsloot, Alan Fryer, Alaa Y Edrees, James MacKenzie, Louise S. Bicknell, Carol Wise, Nine V A M Knoers, Pierre Sarda, Nikolaus Kau

Publikováno v: Nature genetics
Nature Genetics, 43(4), 356-359. Nature Publishing Group
Bicknell, L S, Bongers, E M H F, Leitch, A, Brown, S, Schoots, J, Harley, M E, Aftimos, S, Al-Aama, J Y, Bober, M, Brown, P A J, van Bokhoven, H, Dean, J, Edrees, A Y, Feingold, M, Fryer, A, Hoefsloot, L H, Kau, N, Knoers, N V A M, Mackenzie, J, Opitz, J M, Sarda, P, Ross, A, Temple, I K, Toutain, A, Wise, C A, Wright, M & Jackson, A P 2011, ' Mutations in the pre-replication complex cause Meier-Gorlin syndrome ', Nature Genetics, vol. 43, no. 4, pp. 356-359 . https://doi.org/10.1038/ng.775
Nature Genetics, 43, 356-9
Nature Genetics, 43, 4, pp. 356-9

Contains fulltext : 97141.pdf (Publisher’s version ) (Closed access) Meier-Gorlin syndrome (ear, patella and short-stature syndrome) is an autosomal recessive primordial dwarfism syndrome characterized by absent or hypoplastic patellae and markedly

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https://doi.org/10.1038/ng.775