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Xu, C. Generalized Arterial Calcification of Infancy. Encyclopedia. Available online: https://encyclopedia.pub/entry/3985 (accessed on 29 September 2026).
Xu C. Generalized Arterial Calcification of Infancy. Encyclopedia. Available at: https://encyclopedia.pub/entry/3985. Accessed September 29, 2026.
Xu, Camila. "Generalized Arterial Calcification of Infancy" Encyclopedia, https://encyclopedia.pub/entry/3985 (accessed September 29, 2026).
Xu, C. (2020, December 23). Generalized Arterial Calcification of Infancy. In Encyclopedia. https://encyclopedia.pub/entry/3985
Xu, Camila. "Generalized Arterial Calcification of Infancy." Encyclopedia. Web. 23 December, 2020.
Generalized Arterial Calcification of Infancy
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/generalized-arterial-calcification-of-infancy

Generalized arterial calcification of infancy (GACI) is a disorder affecting the circulatory system that becomes apparent before birth or within the first few months of life.

genetic conditions

References

  1. Ciana G, Trappan A, Bembi B, Benettoni A, Maso G, Zennaro F, Ruf N, SchnabelD, Rutsch F. Generalized arterial calcification of infancy: two siblings withprolonged survival. Eur J Pediatr. 2006 Apr;165(4):258-63.
  2. Ferreira C, Ziegler S, Gahl WA. Generalized Arterial Calcification of Infancy.2014 Nov 13. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, StephensK, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK253403/
  3. Galletti S, Nitschke Y, Malavolti AM, Aquilano G, Faldella G, Corvaglia L,Rutsch F. Generalized Arterial Calcification of Infancy: Fatal Clinical CourseAssociated with a Novel Mutation in ENPP1. JIMD Rep. 2011;1:23-7. doi:10.1007/8904_2011_11.
  4. Kalal IG, Seetha D, Panda A, Nitschke Y, Rutsch F. Molecular diagnosis ofgeneralized arterial calcification of infancy (GACI). J Cardiovasc Dis Res. 2012 Apr;3(2):150-4. doi: 10.4103/0975-3583.95373.
  5. Karthikeyan G. Generalized arterial calcification of infancy. J Pediatr. 2013 May;162(5):1074.e1. doi: 10.1016/j.jpeds.2012.11.015.
  6. Li Q, Brodsky JL, Conlin LK, Pawel B, Glatz AC, Gafni RI, Schurgers L, UittoJ, Hakonarson H, Deardorff MA, Levine MA. Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap withpseudoxanthoma elasticum. J Invest Dermatol. 2014 Mar;134(3):658-665. doi:10.1038/jid.2013.370.
  7. Nitschke Y, Baujat G, Botschen U, Wittkampf T, du Moulin M, Stella J, LeMerrer M, Guest G, Lambot K, Tazarourte-Pinturier MF, Chassaing N, Roche O,Feenstra I, Loechner K, Deshpande C, Garber SJ, Chikarmane R, Steinmann B,Shahinyan T, Martorell L, Davies J, Smith WE, Kahler SG, McCulloch M, Wraige E,Loidi L, Höhne W, Martin L, Hadj-Rabia S, Terkeltaub R, Rutsch F. Generalizedarterial calcification of infancy and pseudoxanthoma elasticum can be caused bymutations in either ENPP1 or ABCC6. Am J Hum Genet. 2012 Jan 13;90(1):25-39. doi:10.1016/j.ajhg.2011.11.020.
  8. Ruf N, Uhlenberg B, Terkeltaub R, Nürnberg P, Rutsch F. The mutationalspectrum of ENPP1 as arising after the analysis of 23 unrelated patients withgeneralized arterial calcification of infancy (GACI). Hum Mutat. 2005Jan;25(1):98. Erratum in: Hum Mutat. 2005 Nov;26(5):495-6.
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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 : Camila Xu
View Times: 706
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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