Citations for
1CRS2, MSX2
The Boston-type craniosynostosis mutation MSX2 (P148H) results in enhanced susceptibility of MSX2 to ubiquitin-dependent degradation.
Yoon WJ, Cho YD, Cho KH, Woo KM, Baek JH, Cho JY, Kim GS, Ryoo HM.
J Biol Chem 283(47):32751-61. Epub 2008 Sep 10. 2008
2CRS2, MSX2, DUP5QD
Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication.
Bernardini L, Castori M, Capalbo A, Mokini V, Mingarelli R, Simi P, Bertuccelli A, Novelli A, Dallapiccola B.
Am J Med Genet A 143A(24):2937-2943 [Epub ahead of print] 2007
3MSX2, CRS2, DUP5QD
Craniosynostosis associated with distal 5q-trisomy: Further evidence that extra copy of MSX2 gene leads to craniosynostosis.
Wang JC, Steinraths M, Dang L, Lomax B, Eydoux P, Stockley T, Yong SL, Van Allen MI.
Am J Med Genet A 143A(24):2931-2936 [Epub ahead of print] 2007
4FGFR2, FGFR3, TWIST1, EFNB1, CRS, CRS2
Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
Wilkie AO, Bochukova EG, Hansen RM, Taylor IB, Rannan-Eliya SV, Byren JC, Wall SA, Ramos L, Ven‰ncio M, Hurst JA, O'Rourke AW, Williams LJ, Seller A, Lester T.
Am J Med Genet A 140(23):2631-9. Review. 2006
5CRS2, MSX2
Msx2 gene dosage influences the number of proliferative osteogenic cells in growth centers of the developing murine skull: a possible mechanism for MSX2-mediated craniosynostosis in humans.
Liu YH, et al.
Dev Biol 205(2):260-74. 1999
6MSX2, CRS2
A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis.
Jabs EW, et al.
Cell 75 : 443-450. 1993
7CRS2
Assignment of a gene locus involved in craniosynostosis to chromosome 5qter.
MŸller U, et al.
Hum Mol Genet 2 : 119-122. 1993
8CRS2
Newly recognized autosomal dominant disorder with craniosynostosis.
Warman ML, Mulliken JB, Hayward PG, Muller U.
Am J Med Genet 46(4):444-9. 1993