| 1 | ALX4, PFM1
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| Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1
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| Walters ME, Lacassie Y, Azamian M, Franciskovich R, Zapata G, Hernandez PP, Liu P, Campbell IM, Bostwick BL, Lalani SR.
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| Am J Med Genet A. Mar;185(3):916-922. doi: 10.1002/ajmg.a.62036. Epub 2020 Dec 27. 2021
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| 2 | ALX4, DEL11PP, MSX2, PFM1, PFM2
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| Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.
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| Mavrogiannis LA, Taylor IB, Davies SJ, Ramos FJ, Olivares JL, Wilkie AO.
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| Eur J Hum Genet 14(2):151-8. 2006
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| 3 | ALX4, PFM1, MNX1, SCRA, VSX1, KTCN1, VSX2, MCIA, SOPT, HESX1, HOXD13, PSDY2, MSX2, PFM2, SIX3, HPE2, DCS, SHOX
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| Homeodomain revisited: a lesson from disease-causing mutations.
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| Chi YI.
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| Hum Genet 116(6):433-44. Epub 2005 Feb 23. 2005
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| 4 | ALX4, MSX2, PFM1, PFM2
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| Alx4 and Msx2 play phenotypically similar and additive roles in skull vault differentiation.
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| Antonopoulou I, Mavrogiannis LA, Wilkie AO, Morriss-Kay GM.
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| J Anat 204(6):487-99.
2004
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| 5 | ALX4, DEL11PP, PFM1
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| The ALX4 homeobox gene is mutated in patients with ossification defects of the skull.
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| Wuyts W, Cleiren E, Homfray T, Rasore-Quartino A, Vanhoenacker F, Van Hul W.
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| J Med Genet 37(12):916-20. 2000
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| 6 | ALX4, DEL11PP, PFM1
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| Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome.
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| Wu YQ, Badano JL, McCaskill C, Vogel H, Potocki L, Shaffer LG.
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| Am J Hum Genet 67(5):1327-32. 2000
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| 7 | DEL11PP, EXT2, PFM1
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| 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.
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| Bartsch O, et al.
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| Am J Hum Genet 58 : 734-742. 1996
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| 8 | DEL11PP, PFM1
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| Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation.
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| Shaffer LG, et al.
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| Am J Med Genet 45 : 581-583. 1993
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