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The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500).
J Med Genet. 2000 Dec;37(12):916-20. doi: 10.1136/jmg.37.12.916.
J Med Genet. 2000.
PMID: 11106354
Free PMC article.
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.
Mavrogiannis LA, Antonopoulou I, Baxová A, Kutílek S, Kim CA, Sugayama SM, Salamanca A, Wall SA, Morriss-Kay GM, Wilkie AO.
Mavrogiannis LA, et al.
Nat Genet. 2001 Jan;27(1):17-8. doi: 10.1038/83703.
Nat Genet. 2001.
PMID: 11137991
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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.
Mavrogiannis LA, et al.
Eur J Hum Genet. 2006 Feb;14(2):151-8. doi: 10.1038/sj.ejhg.5201526.
Eur J Hum Genet. 2006.
PMID: 16319823
Free PMC article.
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