Citations for
1ALX4, DEL11PP, MSX2, PFM1, PFM2
Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.
Mavrogiannis LA, Taylor IB, Davies SJ, Ramos FJ, Olivares JL, Wilkie AO.
Eur J Hum Genet 14(2):151-8. 2006
2ALX4, PFM1, MNX1, SCRA, VSX1, KTCN1, VSX2, MCIA, SOPT, HESX1, HOXD13, PSDY2, MSX2, PFM2, SIX3, HPE2, DCS, SHOX
Homeodomain revisited: a lesson from disease-causing mutations.
Chi YI.
Hum Genet 116(6):433-44. Epub 2005 Feb 23. 2005
3ALX4, MSX2, PFM1, PFM2
Alx4 and Msx2 play phenotypically similar and additive roles in skull vault differentiation.
Antonopoulou I, Mavrogiannis LA, Wilkie AO, Morriss-Kay GM.
J Anat 204(6):487-99. 2004
4ALX4, DEL11PP, PFM1
The ALX4 homeobox gene is mutated in patients with ossification defects of the skull.
Wuyts W, Cleiren E, Homfray T, Rasore-Quartino A, Vanhoenacker F, Van Hul W.
J Med Genet 37(12):916-20. 2000
5ALX4, DEL11PP, PFM1
Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome.
Wu YQ, Badano JL, McCaskill C, Vogel H, Potocki L, Shaffer LG.
Am J Hum Genet 67(5):1327-32. 2000
6DEL11PP, EXT2, PFM1
Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions on the short arm of chromosome 11.
Bartsch O, et al.
Am J Hum Genet 58 : 734-742. 1996
7DEL11PP, PFM1
Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation.
Shaffer LG, et al.
Am J Med Genet 45 : 581-583. 1993