{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T22:15:31Z","timestamp":1789942531427,"version":"4.0.1"},"reference-count":19,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2014,9,3]],"date-time":"2014-09-03T00:00:00Z","timestamp":1409702400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"published-print":{"date-parts":[[2014,12]]},"DOI":"10.1186\/1752-1947-8-291","type":"journal-article","created":{"date-parts":[[2014,9,3]],"date-time":"2014-09-03T09:02:44Z","timestamp":1409734964000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Hyaline fibromatosis syndrome with mutation c.1074delT of the CMG2 gene: a case report"],"prefix":"10.1186","volume":"8","author":[{"given":"Imane","family":"Cherkaoui Jaouad","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soukaina","family":"Guaoua","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aicha","family":"Hajjioui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdelaziz","family":"Sefiani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2014,9,3]]},"reference":[{"key":"2913_CR1","first-page":"928","volume":"112","author":"A Mayer-da-Silva","year":"1988","unstructured":"Mayer-da-Silva A, Poiares-Baptista A, Guerra Rodrigo F, Teresa-Lopes M: Juvenile hyaline fibromatosis. A histologic and histochemical study. Arch Pathol Lab Med. 1988, 112: 928-931.","journal-title":"Arch Pathol Lab Med"},{"key":"2913_CR2","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1002\/1096-8628(20010422)100:2<122::AID-AJMG1236>3.0.CO;2-0","volume":"100","author":"U Stucki","year":"2001","unstructured":"Stucki U, Spycher MA, Eich G, Rossi A, Sacher P, Steinmann B, Superti-Furga A: Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature. Am J Med Genet. 2001, 100: 122-129. 10.1002\/1096-8628(20010422)100:2<122::AID-AJMG1236>3.0.CO;2-0.","journal-title":"Am J Med Genet"},{"key":"2913_CR3","doi-asserted-by":"publisher","first-page":"791","DOI":"10.1086\/378418","volume":"73","author":"S Hanks","year":"2003","unstructured":"Hanks S, Adams S, Douglas J, Arbour L, Atherton DJ, Balci S, Bode H, Campbell ME, Feingold M, Keser G, Kleijer W, Mancini G, McGrath JA, Muntoni F, Nanda A, Teare MD, Warman M, Pope FM, Superti-Furga A, Futreal PA, Rahman N: Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet. 2003, 73: 791-800. 10.1086\/378418.","journal-title":"Am J Hum Genet"},{"key":"2913_CR4","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1111\/j.1365-2133.2010.09769.x","volume":"163","author":"GY El-Kamah","year":"2010","unstructured":"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 in infantile systemic hyalinosis and juvenile hyaline fibromatosis. Br J Dermatol. 2010, 163: 213-215.","journal-title":"Br J Dermatol"},{"key":"2913_CR5","doi-asserted-by":"publisher","first-page":"695","DOI":"10.1016\/j.jaad.2009.01.039","volume":"61","author":"A Nofal","year":"2009","unstructured":"Nofal A, Sanad M, Assaf M, Nofal E, Nassar A, Almokadem S, Attwa E, Elmosalamy K: Juvenile hyaline fibromatosis and infantile systemic hyalinosis: a unifying term and a proposed grading system. J Am Acad Dermatol. 2009, 61: 695-700. 10.1016\/j.jaad.2009.01.039.","journal-title":"J Am Acad Dermatol"},{"key":"2913_CR6","first-page":"293","volume":"86","author":"A Whitfield","year":"1903","unstructured":"Whitfield A, Robinson AH: A further report on the remarkable series of cases of molluscum fibrosum in children communicated to the Society by Dr. John Murray in 1873. Med Chir Trans. 1903, 86: 293-302.","journal-title":"Med Chir Trans"},{"key":"2913_CR7","doi-asserted-by":"publisher","first-page":"427","DOI":"10.1016\/S0022-3468(67)80083-6","volume":"2","author":"E Drescher","year":"1967","unstructured":"Drescher E, Woyke S, Markiewicz C, Tegi S: Juvenile fibromatosis in siblings (fibromatosis hyalinica multiplex juvenilis). J Pediat Surg. 1967, 2: 427-430. 10.1016\/S0022-3468(67)80083-6.","journal-title":"J Pediat Surg"},{"key":"2913_CR8","doi-asserted-by":"publisher","first-page":"55","DOI":"10.3109\/15513818609025925","volume":"6","author":"BH Landing","year":"1986","unstructured":"Landing BH, Nadorra R: Infantile systemic hyalinosis: report of four cases of a disease, fatal in infancy, apparently different from juvenile systemic hyalinosis. Pediatr Pathol. 1986, 6: 55-79. 10.3109\/15513818609025925.","journal-title":"Pediatr Pathol"},{"key":"2913_CR9","first-page":"717","volume":"23","author":"SM Al-Mayouf","year":"2005","unstructured":"Al-Mayouf SM, AlMehaidib A, Bahabri S, Shabib S, Sakati N, Teebi AS: Infantile systemic hyalinosis: a fatal disorder commonly diagnosed among Arabs. Clin Exp Rheumatol. 2005, 23: 717-720.","journal-title":"Clin Exp Rheumatol"},{"key":"2913_CR10","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1007\/s00431-008-0760-8","volume":"168","author":"L Al-Mubarak","year":"2009","unstructured":"Al-Mubarak L, Al-Makadma A, Al-Khenaizan S: Infantile systemic hyalinosis presenting as intractable infantile diarrhea. Eur J Pediatr. 2009, 168: 363-365. 10.1007\/s00431-008-0760-8.","journal-title":"Eur J Pediatr"},{"key":"2913_CR11","doi-asserted-by":"publisher","first-page":"5170","DOI":"10.1073\/pnas.0431098100","volume":"100","author":"HM Scobie","year":"2003","unstructured":"Scobie HM, Rainey GJ, Bradley KA, Young JA: Human capillary morphogenesis protein 2 functions as an anthrax toxin receptor. Proc Natl Acad Sci U S A. 2003, 100: 5170-5174. 10.1073\/pnas.0431098100.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2913_CR12","doi-asserted-by":"publisher","first-page":"12424","DOI":"10.1073\/pnas.0905409106","volume":"106","author":"S Liu","year":"2009","unstructured":"Liu S, Crown D, Miller-Randolph S, Moayeri M, Wang H, Hu H, Morley T, Leppla SH: Capillary morphogenesis protein-2 is the major receptor mediating lethality of anthrax toxin in vivo. Proc Natl Acad Sci U S A. 2009, 106: 12424-12429. 10.1073\/pnas.0905409106.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2913_CR13","doi-asserted-by":"publisher","first-page":"789","DOI":"10.1038\/onc.2009.383","volume":"29","author":"CV Reeves","year":"2009","unstructured":"Reeves CV, Dufraine J, Young JA, Kitajewski J: Anthrax toxin receptor 2 is expressed in murine and tumor vasculature and functions in endothelial proliferation and morphogenesis. Oncogene. 2009, 29: 789-801.","journal-title":"Oncogene"},{"key":"2913_CR14","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1002\/emmm.201100124","volume":"3","author":"J Deuquet","year":"2011","unstructured":"Deuquet J, Lausch E, Guex N, Abrami L, Salvi S, Lakkaraju A, Ramirez MC, Martignetti JA, Rokicki D, Bonafe L, Superti-Furga A, van der Goot FG: Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors. EMBO Mol Med. 2011, 3: 208-221. 10.1002\/emmm.201100124.","journal-title":"EMBO Mol Med"},{"key":"2913_CR15","doi-asserted-by":"publisher","first-page":"309","DOI":"10.1083\/jcb.200507067","volume":"172","author":"L Abrami","year":"2006","unstructured":"Abrami L, Leppla SH, van der Goot FG: Receptor palmitoylation and ubiquitination regulate anthrax toxin endocytosis. J Cell Biol. 2006, 172: 309-320. 10.1083\/jcb.200507067.","journal-title":"J Cell Biol"},{"key":"2913_CR16","doi-asserted-by":"publisher","first-page":"1420","DOI":"10.1073\/pnas.0910782107","volume":"107","author":"L Abrami","year":"2010","unstructured":"Abrami L, Kunz B, van der Goot FG: Anthrax toxin triggers the activation of src-like kinases to mediate its own uptake. Proc Natl Acad Sci U S A. 2010, 107: 1420-1424. 10.1073\/pnas.0910782107.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2913_CR17","doi-asserted-by":"publisher","first-page":"1005","DOI":"10.1002\/humu.22324","volume":"34","author":"SE Yan","year":"2013","unstructured":"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 frameshift mutations at the same site reveal the necessity of personalized therapy. Hum Mutat. 2013, 34: 1005-1017. 10.1002\/humu.22324.","journal-title":"Hum Mutat"},{"key":"2913_CR18","doi-asserted-by":"publisher","first-page":"394","DOI":"10.1016\/j.ceb.2009.02.007","volume":"21","author":"I Rebbapragada","year":"2009","unstructured":"Rebbapragada I, Lykke-Andersen J: Execution of nonsense-mediated mRNA decay: what defines a substrate?. Curr Opin Cell Biol. 2009, 21: 394-402. 10.1016\/j.ceb.2009.02.007.","journal-title":"Curr Opin Cell Biol"},{"key":"2913_CR19","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1017\/S0021932009003393","volume":"41","author":"IC Jaouad","year":"2009","unstructured":"Jaouad IC, Elalaoui SC, Sbiti A, Elkerch F, Belmahi L, Sefiani A: Consanguineous marriages in Morocco and the consequence for the incidence of autosomal recessive disorders. J Biosoc Sci. 2009, 41: 575-581. 10.1017\/S0021932009003393.","journal-title":"J Biosoc Sci"}],"container-title":["Journal of Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1752-1947-8-291.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/1752-1947-8-291\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1752-1947-8-291","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1752-1947-8-291.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,16]],"date-time":"2022-04-16T05:29:58Z","timestamp":1650086998000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmedicalcasereports.biomedcentral.com\/articles\/10.1186\/1752-1947-8-291"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,9,3]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["2913"],"URL":"https:\/\/doi.org\/10.1186\/1752-1947-8-291","relation":{},"ISSN":["1752-1947"],"issn-type":[{"value":"1752-1947","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,9,3]]},"assertion":[{"value":"22 February 2014","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 July 2014","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 September 2014","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"291"}}