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Yang, C. Bohring-Opitz Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4998 (accessed on 22 September 2026).
Yang C. Bohring-Opitz Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4998. Accessed September 22, 2026.
Yang, Catherine. "Bohring-Opitz Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4998 (accessed September 22, 2026).
Yang, C. (2020, December 24). Bohring-Opitz Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4998
Yang, Catherine. "Bohring-Opitz Syndrome." Encyclopedia. Web. 24 December, 2020.
Bohring-Opitz Syndrome
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/bohring-opitz-syndrome

Bohring-Opitz syndrome is a rare condition that affects the development of many parts of the body.

genetic conditions

References

  1. Bedoukian E, Copenheaver D, Bale S, Deardorff M. Bohring-Opitz syndrome causedby an ASXL1 mutation inherited from a germline mosaic mother. Am J Med Genet A.2018 May;176(5):1249-1252. doi: 10.1002/ajmg.a.38686.
  2. Bohring A, Oudesluijs GG, Grange DK, Zampino G, Thierry P. New cases ofBohring-Opitz syndrome, update, and critical review of the literature. Am J MedGenet A. 2006 Jun 15;140(12):1257-63. Review.
  3. Hoischen A, van Bon BW, Rodríguez-Santiago B, Gilissen C, Vissers LE, de VriesP, Janssen I, van Lier B, Hastings R, Smithson SF, Newbury-Ecob R, Kjaergaard S, Goodship J, McGowan R, Bartholdi D, Rauch A, Peippo M, Cobben JM, Wieczorek D,Gillessen-Kaesbach G, Veltman JA, Brunner HG, de Vries BB. De novo nonsensemutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet. 2011 Jun26;43(8):729-31. doi: 10.1038/ng.868.
  4. Magini P, Della Monica M, Uzielli ML, Mongelli P, Scarselli G, Gambineri E,Scarano G, Seri M. Two novel patients with Bohring-Opitz syndrome caused by denovo ASXL1 mutations. Am J Med Genet A. 2012 Apr;158A(4):917-21. doi:10.1002/ajmg.a.35265.
  5. Russell B, Johnston JJ, Biesecker LG, Kramer N, Pickart A, Rhead W, Tan WH,Brownstein CA, Kate Clarkson L, Dobson A, Rosenberg AZ, Vergano SA, Helm BM,Harrison RE, Graham JM Jr. Clinical management of patients with ASXL1 mutationsand Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance. AmJ Med Genet A. 2015 Sep;167A(9):2122-31. doi: 10.1002/ajmg.a.37131.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
View Times: 1.2K
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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