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Zhou, V. ALX4 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4656 (accessed on 26 September 2026).
Zhou V. ALX4 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4656. Accessed September 26, 2026.
Zhou, Vicky. "ALX4 Gene" Encyclopedia, https://encyclopedia.pub/entry/4656 (accessed September 26, 2026).
Zhou, V. (2020, December 24). ALX4 Gene. In Encyclopedia. https://encyclopedia.pub/entry/4656
Zhou, Vicky. "ALX4 Gene." Encyclopedia. Web. 24 December, 2020.
ALX4 Gene
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/alx4

ALX homeobox 4. The ALX4 gene provides instructions for making a member of the homeobox protein family.

genes

References

  1. Griessenauer CJ, Veith P, Mortazavi MM, Stewart C, Grochowsky A, Loukas M,Tubbs RS. Enlarged parietal foramina: a review of genetics, prognosis, radiology,and treatment. Childs Nerv Syst. 2013 Apr;29(4):543-7. doi:10.1007/s00381-012-1982-7.
  2. Hall CR, Wu Y, Shaffer LG, Hecht JT. Familial case of Potocki-Shaffer syndromeassociated with microdeletion of EXT2 and ALX4. Clin Genet. 2001 Nov;60(5):356-9.
  3. Kariminejad A, Bozorgmehr B, Alizadeh H, Ghaderi-Sohi S, Toksoy G, Uyguner ZO,Kayserili H. Skull defects, alopecia, hypertelorism, and notched alae nasi causedby homozygous ALX4 gene mutation. Am J Med Genet A. 2014 May;164A(5):1322-7. doi:10.1002/ajmg.a.36008.
  4. Kayserili H, Altunoglu U, Ozgur H, Basaran S, Uyguner ZO. Mild nasalmalformations and parietal foramina caused by homozygous ALX4 mutations. Am J MedGenet A. 2012 Jan;158A(1):236-44. doi: 10.1002/ajmg.a.34390.
  5. Kayserili H, Uz E, Niessen C, Vargel I, Alanay Y, Tuncbilek G, Yigit G,Uyguner O, Candan S, Okur H, Kaygin S, Balci S, Mavili E, Alikasifoglu M, HaaseI, Wollnik B, Akarsu NA. ALX4 dysfunction disrupts craniofacial and epidermaldevelopment. Hum Mol Genet. 2009 Nov 15;18(22):4357-66. doi: 10.1093/hmg/ddp391.
  6. Mavrogiannis LA, Wilkie AOM. Enlarged Parietal Foramina. 2004 Mar 30 [updated 2019 Nov 27]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1128/
  7. Romeike BF, Wuyts W. Proximal chromosome 11p contiguous gene deletion syndromephenotype: case report and review of the literature. Clin Neuropathol. 2007Jan-Feb;26(1):1-11. Review.
  8. Wakui K, Gregato G, Ballif BC, Glotzbach CD, Bailey KA, Kuo PL, Sue WC,Sheffield LJ, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG. Construction ofa natural panel of 11p11.2 deletions and further delineation of the criticalregion involved in Potocki-Shaffer syndrome. Eur J Hum Genet. 2005May;13(5):528-40.
  9. Wu YQ, Badano JL, McCaskill C, Vogel H, Potocki L, Shaffer LG.Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the11p11.2 contiguous gene-deletion syndrome. Am J Hum Genet. 2000Nov;67(5):1327-32.
  10. Wuyts W, Cleiren E, Homfray T, Rasore-Quartino A, Vanhoenacker F, Van Hul W.The ALX4 homeobox gene is mutated in patients with ossification defects of theskull (foramina parietalia permagna, OMIM 168500). J Med Genet. 2000Dec;37(12):916-20.
  11. Wuyts W, Waeber G, Meinecke P, Schüler H, Goecke TO, Van Hul W, Bartsch O.Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinicaland molecular aspects. Eur J Hum Genet. 2004 May;12(5):400-6. Review.
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Subjects: Genetics & Heredity
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Update Date: 24 Dec 2020
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