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References

1. Bürgi J, Kunz B, Abrami L, Deuquet J, Piersigilli A, Scholl-Bürgi S, Lausch E,Unger S, Superti-Furga A, Bonaldo P, van der Goot FG. CMG2/ANTXR2 regulatesextracellular collagen VI which accumulates in hyaline fibromatosis syndrome. NatCommun. 2017 Jun 12;8:15861. doi: 10.1038/ncomms15861.
2. Deuquet J, Abrami L, Difeo A, Ramirez MC, Martignetti JA, van der Goot FG.Systemic hyalinosis mutations in the CMG2 ectodomain leading to loss of function through retention in the endoplasmic reticulum. Hum Mutat. 2009 Apr;30(4):583-9. doi: 10.1002/humu.20872.
3. Deuquet J, Lausch E, Superti-Furga A, van der Goot FG. The dark sides ofcapillary morphogenesis gene 2. EMBO J. 2012 Jan 4;31(1):3-13. doi:10.1038/emboj.2011.442.
4. Dowling O, Difeo A, Ramirez MC, Tukel T, Narla G, Bonafe L, Kayserili H,Yuksel-Apak M, Paller AS, Norton K, Teebi AS, Grum-Tokars V, Martin GS, Davis GE,Glucksman MJ, Martignetti JA. Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemichyalinosis. Am J Hum Genet. 2003 Oct;73(4):957-66.
5. El-Kamah GY, Fong K, El-Ruby M, Afifi HH, Clements SE, Lai-Cheong JE, Amr K,El-Darouti M, McGrath JA. Spectrum of mutations in the ANTXR2 (CMG2) gene ininfantile systemic hyalinosis and juvenile hyaline fibromatosis. Br J Dermatol.2010 Jul;163(1):213-5. doi: 10.1111/j.1365-2133.2010.09769.x.
6. Liu S, Crown D, Miller-Randolph S, Moayeri M, Wang H, Hu H, Morley T, LepplaSH. Capillary morphogenesis protein-2 is the major receptor mediating lethalityof anthrax toxin in vivo. Proc Natl Acad Sci U S A. 2009 Jul 28;106(30):12424-9. doi: 10.1073/pnas.0905409106.
7. Rahman N, Dunstan M, Teare MD, Hanks S, Edkins SJ, Hughes J, Bignell GR,Mancini G, Kleijer W, Campbell M, Keser G, Black C, Williams N, Arbour L, Warman M, Superti-Furga A, Futreal PA, Pope FM. The gene for juvenile hyalinefibromatosis maps to chromosome 4q21. Am J Hum Genet. 2002 Oct;71(4):975-80.
8. Shieh JTC, Hoyme HE, Arbour LT. Hyaline Fibromatosis Syndrome. 2008 Feb 27[updated 2020 Jul 23]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1525/
9. Tanaka K, Ebihara T, Kusubata M, Adachi E, Arai M, Kawaguchi N, Utsunomiya J, Miki Y, Hiramoto M, Hattori S, Irie S. Abnormal collagen deposition in fibromasfrom patient with juvenile hyaline fibromatosis. J Dermatol Sci. 2009Sep;55(3):197-200. doi: 10.1016/j.jdermsci.2009.06.005.
10. Yan SE, Lemmin T, Salvi S, Lausch E, Superti-Furga A, Rokicki D, Dal Peraro M,van der Goot FG. In-depth analysis of hyaline fibromatosis syndrome frameshiftmutations at the same site reveal the necessity of personalized therapy. HumMutat. 2013 Jul;34(7):1005-17. doi: 10.1002/humu.22324.