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Yang, C. CHOPS Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/5077 (accessed on 22 September 2026).
Yang C. CHOPS Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/5077. Accessed September 22, 2026.
Yang, Catherine. "CHOPS Syndrome" Encyclopedia, https://encyclopedia.pub/entry/5077 (accessed September 22, 2026).
Yang, C. (2020, December 24). CHOPS Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/5077
Yang, Catherine. "CHOPS Syndrome." Encyclopedia. Web. 24 December, 2020.
CHOPS Syndrome
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/chops-syndrome

CHOPS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). The name "CHOPS" is an abbreviation for a list of features of the disorder including cognitive impairment, coarse facial features, heart defects, obesity, lung (pulmonary) involvement, short stature, and skeletal abnormalities.

genetic conditions

References

  1. Izumi K, Nakato R, Zhang Z, Edmondson AC, Noon S, Dulik MC, Rajagopalan R,Venditti CP, Gripp K, Samanich J, Zackai EH, Deardorff MA, Clark D, Allen JL,Dorsett D, Misulovin Z, Komata M, Bando M, Kaur M, Katou Y, Shirahige K, KrantzID. Germline gain-of-function mutations in AFF4 cause a developmental syndromefunctionally linking the super elongation complex and cohesin. Nat Genet. 2015Apr;47(4):338-44. doi: 10.1038/ng.3229.
  2. Luo Z, Lin C, Shilatifard A. The super elongation complex (SEC) family intranscriptional control. Nat Rev Mol Cell Biol. 2012 Sep;13(9):543-7. doi:10.1038/nrm3417.
  3. Smith E, Lin C, Shilatifard A. The super elongation complex (SEC) and MLL indevelopment and disease. Genes Dev. 2011 Apr 1;25(7):661-72. doi:10.1101/gad.2015411. Review.
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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
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Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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