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Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.
Am J Hum Genet. 2009 May;84(5):698-705. doi: 10.1016/j.ajhg.2009.04.009. Epub 2009 Apr 30.
Am J Hum Genet. 2009.
PMID: 19409524
Free PMC article.
These mutations comprise missense substitutions at critical positions within the conserved homeodomain as well as nonsense, frameshift, and splice-site mutations, all predicting severe or complete loss of function. Our findings contrast with previous studies of the ortholo …
These mutations comprise missense substitutions at critical positions within the conserved homeodomain as well as nonsense, frameshift, and …
Mild nasal clefting may be predictive for ALX4 heterozygotes.
Altunoglu U, Satkın B, Uyguner ZO, Kayserili H.
Altunoglu U, et al.
Am J Med Genet A. 2014 Aug;164A(8):2054-8. doi: 10.1002/ajmg.a.36578. Epub 2014 Apr 24.
Am J Med Genet A. 2014.
PMID: 24764194
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