{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T01:06:59Z","timestamp":1791594419213,"version":"4.3.4"},"reference-count":40,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>Brittle cornea syndrome (BCS) is an autosomal recessive disorder characterised by extreme corneal thinning and fragility. Corneal rupture can therefore occur either spontaneously or following minimal trauma in affected patients. Two genes, <jats:italic>ZNF469<\/jats:italic> and <jats:italic>PRDM5<\/jats:italic>, have now been identified, in which causative pathogenic mutations collectively account for the condition in nearly all patients with BCS ascertained to date. Therefore, effective molecular diagnosis is now available for affected patients, and those at risk of being heterozygous carriers for BCS. We have previously identified mutations in <jats:italic>ZNF469<\/jats:italic> in 14 families (in addition to 6 reported by others in the literature), and in <jats:italic>PRDM5<\/jats:italic> in 8 families (with 1 further family now published by others). Clinical features include extreme corneal thinning with rupture, high myopia, blue sclerae, deafness of mixed aetiology with hypercompliant tympanic membranes, and variable skeletal manifestations. Corneal rupture may be the presenting feature of BCS, and it is possible that this may be incorrectly attributed to non-accidental injury. Mainstays of management include the prevention of ocular rupture by provision of protective polycarbonate spectacles, careful monitoring of visual and auditory function, and assessment for skeletal complications such as developmental dysplasia of the hip. Effective management depends upon appropriate identification of affected individuals, which may be challenging given the phenotypic overlap of BCS with other connective tissue disorders.<\/jats:p>","DOI":"10.1186\/1750-1172-8-68","type":"journal-article","created":{"date-parts":[[2013,5,4]],"date-time":"2013-05-04T04:28:11Z","timestamp":1367641691000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":59,"title":["Brittle cornea syndrome: recognition, molecular diagnosis and management"],"prefix":"10.1186","volume":"8","author":[{"given":"Emma MM","family":"Burkitt Wright","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise F","family":"Porter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen L","family":"Spencer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill","family":"Clayton-Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leon","family":"Au","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francis L","family":"Munier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Smithson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohnish","family":"Suri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"Rohrbach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Forbes DC","family":"Manson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graeme CM","family":"Black","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,5,4]]},"reference":[{"key":"571_CR1","doi-asserted-by":"publisher","first-page":"1217","DOI":"10.1016\/j.ajhg.2008.04.001","volume":"82","author":"A Abu","year":"2008","unstructured":"Abu A, Frydman M, Marek D, Pras E, Nir U, Reznik-Wolf H, Pras E: Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome. Am J Hum Genet. 2008, 82: 1217-22. 10.1016\/j.ajhg.2008.04.001.","journal-title":"Am J Hum Genet"},{"key":"571_CR2","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1167\/iovs.09-4251","volume":"51","author":"AE Christensen","year":"2010","unstructured":"Christensen AE, Knappskog PM, Midtb\u00f8 M, Gjesdal CG, Mengel-From J, Morling N, R\u00f8dahl E, Boman H: Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene. Invest Ophthalmol Vis Sci. 2010, 51: 47-52. 10.1167\/iovs.09-4251.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"571_CR3","doi-asserted-by":"publisher","first-page":"767","DOI":"10.1016\/j.ajhg.2011.05.007","volume":"88","author":"EM Burkitt Wright","year":"2011","unstructured":"Burkitt Wright EM, Spencer HL, Daly SB, Manson FD, Zeef LA, Urquhart J, Zoppi N, Bonshek R, Tosounidis I, Mohan M, Madden C, Dodds A, Chandler KE, Banka S, Au L, Clayton-Smith J, Khan N, Biesecker LG, Wilson M, Rohrbach M, Colombi M, Giunta C, Black GC: Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. Am J Hum Genet. 2011, 88: 767-77. 10.1016\/j.ajhg.2011.05.007.","journal-title":"Am J Hum Genet"},{"key":"571_CR4","doi-asserted-by":"publisher","first-page":"198","DOI":"10.1111\/j.1399-0004.2011.01808.x","volume":"81","author":"MA Aldahmesh","year":"2012","unstructured":"Aldahmesh MA, Mohamed JY, Alkuraya FS: A novel mutation in PRDM5 in brittle cornea syndrome. Clin Genet. 2012, 81: 198-9. 10.1111\/j.1399-0004.2011.01808.x.","journal-title":"Clin Genet"},{"key":"571_CR5","doi-asserted-by":"publisher","first-page":"257","DOI":"10.3109\/13816810.2012.670362","volume":"33","author":"AO Khan","year":"2012","unstructured":"Khan AO, Aldahmesh MA, Alkuraya FS: Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation. Ophthalmic Genet. 2012, 33: 257-9. 10.3109\/13816810.2012.670362.","journal-title":"Ophthalmic Genet"},{"key":"571_CR6","unstructured":"Rohrbach M, Spencer HL, Porter LF, Burkitt-Wright EMM, B\u00fcrer C, Janecke A, Bakshi M, Sillence D, Al-Hussain H, Baumgartner M, Steinmann B, Black GCM, Manson FDC, Giunta C: ZNF469, Frequently Mutated in the Brittle Cornea Syndrome (BCS), is a Single Exon Gene Possibly Regulating the Expression of Several Extracellular Matrix Components. Mol Genet Metab. in press, in press"},{"key":"571_CR7","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1016\/0002-9394(68)91789-3","volume":"66","author":"R Stein","year":"1968","unstructured":"Stein R, Lazar M, Adam A: Brittle cornea. A familial trait associated with blue sclera. Am J Ophthalmol. 1968, 66: 67-9.","journal-title":"Am J Ophthalmol"},{"key":"571_CR8","doi-asserted-by":"publisher","first-page":"5283","DOI":"10.1167\/iovs.06-0206","volume":"47","author":"A Abu","year":"2006","unstructured":"Abu A, Frydman M, Marek D, Pras E, Stolovitch C, Aviram-Goldring A, Rienstein S, Reznik-Wolf H, Pras E: Mapping of a gene causing brittle cornea syndrome in Tunisian Jews to 16q24. Invest Ophthalmol Vis Sci. 2006, 47: 5283-7. 10.1167\/iovs.06-0206.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"571_CR9","doi-asserted-by":"publisher","first-page":"424","DOI":"10.1136\/bjo.55.6.424","volume":"55","author":"ND Gregoratos","year":"1971","unstructured":"Gregoratos ND, Bartsocas CS, Papas K: Blue sclerae with keratoglobus and brittle cornea. Br J Ophthalmol. 1971, 55: 424-6. 10.1136\/bjo.55.6.424.","journal-title":"Br J Ophthalmol"},{"key":"571_CR10","doi-asserted-by":"publisher","first-page":"1091","DOI":"10.1097\/ICO.0b013e3181cf98e5","volume":"29","author":"HR Jahadi Hosseini","year":"2010","unstructured":"Jahadi Hosseini HR, Katbab A, Khalili MR, Abtahi MB: Comparison of corneal thickness measurements using Galilei, HR Pentacam, and ultrasound. Cornea. 2010, 29: 1091-5. 10.1097\/ICO.0b013e3181cf98e5.","journal-title":"Cornea"},{"key":"571_CR11","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1097\/00003226-199301000-00009","volume":"12","author":"JA Cameron","year":"1993","unstructured":"Cameron JA: Corneal abnormalities in Ehlers-Danlos syndrome type VI. Cornea. 1993, 12: 54-9. 10.1097\/00003226-199301000-00009.","journal-title":"Cornea"},{"key":"571_CR12","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1097\/00003226-199909000-00019","volume":"18","author":"L Izquierdo Jr","year":"1999","unstructured":"Izquierdo L, Mannis MJ, Marsh PB, Yang SP, McCarthy JM: Bilateral spontaneous corneal rupture in brittle cornea syndrome: a case report. Cornea. 1999, 18: 621-4. 10.1097\/00003226-199909000-00019.","journal-title":"Cornea"},{"key":"571_CR13","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1002\/ajmg.a.20326","volume":"124A","author":"H Al-Hussain","year":"2004","unstructured":"Al-Hussain H, Zeisberger SM, Huber PR, Giunta C, Steinmann B: Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature. Am J Med Genet A. 2004, 124A: 28-34. 10.1002\/ajmg.a.20326.","journal-title":"Am J Med Genet A"},{"key":"571_CR14","volume-title":"Audiology Answers for Otolaryngologists","author":"M Valente","year":"2010","unstructured":"Valente M, Fernandez E, Monroe H: What is tympanometry and how is it performed. Audiology Answers for Otolaryngologists. 1st edition. New York: Thieme; 2010.","edition":"1"},{"key":"571_CR15","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1186\/1750-1172-6-46","volume":"6","author":"M Rohrbach","year":"2011","unstructured":"Rohrbach M, Vandersteen A, Yi\u015f U, Serdaroglu G, Ataman E, Chopra M, Garcia S, Jones K, Kariminejad A, Kraenzlin M, Marcelis C, Baumgartner M, Giunta C: Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation. Orphanet J Rare Dis. 2011, 6: 46-10.1186\/1750-1172-6-46.","journal-title":"Orphanet J Rare Dis"},{"key":"571_CR16","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O","volume":"77","author":"P Beighton","year":"1998","unstructured":"Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ: Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet. 1998, 77: 31-7. 10.1002\/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O.","journal-title":"Am J Med Genet"},{"key":"571_CR17","doi-asserted-by":"publisher","first-page":"1233","DOI":"10.1002\/humu.21355","volume":"31","author":"F Malfait","year":"2010","unstructured":"Malfait F, Syx D, Vlummens P, Symoens S, Nampoothiri S, Hermanns-L\u00ea T, Van Laer L, De Paepe A: Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene. Hum Mutat. 2010, 31: 1233-9. 10.1002\/humu.21355.","journal-title":"Hum Mutat"},{"key":"571_CR18","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1016\/j.ajhg.2011.12.004","volume":"90","author":"M Baumann","year":"2012","unstructured":"Baumann M, Giunta C, Krabichler B, R\u00fcschendorf F, Zoppi N, Colombi M, Bittner RE, Quijano-Roy S, Muntoni F, Cirak S, Schreiber G, Zou Y, Hu Y, Romero NB, Carlier RY, Amberger A, Deutschmann A, Straub V, Rohrbach M, Steinmann B, Rost\u00e1sy K, Karall D, B\u00f6nnemann CG, Zschocke J, Fauth C: Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. Am J Hum Genet. 2012, 90: 201-16. 10.1016\/j.ajhg.2011.12.004.","journal-title":"Am J Hum Genet"},{"key":"571_CR19","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1136\/bjo.54.4.263","volume":"54","author":"P Beighton","year":"1970","unstructured":"Beighton P: Serious ophthalmological complications in the Ehlers-Danlos syndrome. Br J Ophthalmol. 1970, 54: 263-8. 10.1136\/bjo.54.4.263.","journal-title":"Br J Ophthalmol"},{"key":"571_CR20","doi-asserted-by":"publisher","first-page":"1290","DOI":"10.1016\/j.ajhg.2008.05.001","volume":"82","author":"C Giunta","year":"2008","unstructured":"Giunta C, Elcioglu NH, Albrecht B, Eich G, Chambaz C, Janecke AR, Yeowell H, Weis M, Eyre DR, Kraenzlin M, Steinmann B: Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome \u2013 an autosomal recessive entity caused by mutations in the zinc transporter gene SLC39A13. Am J Hum Genet. 2008, 82: 1290-1305. 10.1016\/j.ajhg.2008.05.001.","journal-title":"Am J Hum Genet"},{"key":"571_CR21","doi-asserted-by":"publisher","first-page":"e3642","DOI":"10.1371\/journal.pone.0003642","volume":"3","author":"T Fukada","year":"2008","unstructured":"Fukada T, Civic N, Furuichi T, Shimoda S, Mishima K, Higashiyama H, Idaira Y, Asada Y, Kitamura H, Yamasaki S, Hojyo S, Nakayama M, Ohara O, Koseki H, dos Santos HG, Bonafe L, Ha-Vinh R, Zankl A, Unger S, Kraenzlin ME, Beckman JS, Saito I, Rivolta C, Ikegawa S, Superti-Furga A, Hirano T: The zinc transporter SLC39A13\/ZIP13 is required for connective tissue development; its involvement in BMP\/TGF-beta signaling pathways. PLoS One. 2008, 3: e3642-10.1371\/journal.pone.0003642.","journal-title":"PLoS One"},{"key":"571_CR22","doi-asserted-by":"publisher","first-page":"6889","DOI":"10.1128\/MCB.00762-07","volume":"27","author":"Z Duan","year":"2007","unstructured":"Duan Z, Person RE, Lee HH, Huang S, Donadieu J, Badolato R, Grimes HL, Papayannopoulou T, Horwitz MS: Epigenetic regulation of protein-coding and microRNA genes by the Gfi1-interacting tumor suppressor PRDM5. Mol Cell Biol. 2007, 27: 6889-902. 10.1128\/MCB.00762-07.","journal-title":"Mol Cell Biol"},{"key":"571_CR23","doi-asserted-by":"publisher","first-page":"1376","DOI":"10.1001\/archophthalmol.2010.238","volume":"128","author":"AO Khan","year":"2010","unstructured":"Khan AO, Aldahmesh MA, Mohamed JN, Alkuraya FS: Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X). Arch Ophthalmol. 2010, 128: 1376-9. 10.1001\/archophthalmol.2010.238.","journal-title":"Arch Ophthalmol"},{"key":"571_CR24","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1016\/j.gene.2012.09.022","volume":"511","author":"M Al-Owain","year":"2012","unstructured":"Al-Owain M, Al-Dosari MS, Sunker A, Shuaib T, Alkuraya FS: Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype. Gene. 2012, 511: 447-50. 10.1016\/j.gene.2012.09.022.","journal-title":"Gene"},{"key":"571_CR25","doi-asserted-by":"publisher","first-page":"e1000947","DOI":"10.1371\/journal.pgen.1000947","volume":"6","author":"Y Lu","year":"2010","unstructured":"Lu Y, Dimasi DP, Hysi PG, Hewitt AW, Burdon KP, Toh T, Ruddle JB, Li YJ, Mitchell P, Healey PR, Montgomery GW, Hansell N, Spector TD, Martin NG, Young TL, Hammond CJ, Macgregor S, Craig JE, Mackey DA: Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness. PLoS Genet. 2010, 6: e1000947-10.1371\/journal.pgen.1000947.","journal-title":"PLoS Genet"},{"key":"571_CR26","doi-asserted-by":"publisher","first-page":"4304","DOI":"10.1093\/hmg\/ddq349","volume":"19","author":"V Vitart","year":"2010","unstructured":"Vitart V, Benci\u0107 G, Hayward C, Skunca Herman J, Huffman J, Campbell S, Bu\u0107an K, Navarro P, Gunjaca G, Marin J, Zgaga L, Kolci\u0107 I, Polasek O, Kirin M, Hastie ND, Wilson JF, Rudan I, Campbell H, Vatavuk Z, Fleck B, Wright A: Collagen-related genes influence the glaucoma risk factor, central corneal thickness. Hum Mol Genet. 2010, 19: 4304-11. 10.1093\/hmg\/ddq349.","journal-title":"Hum Mol Genet"},{"key":"571_CR27","doi-asserted-by":"publisher","first-page":"4468","DOI":"10.1167\/iovs.12-9784","volume":"38","author":"M Ulmer","year":"2012","unstructured":"Ulmer M, Li J, Yaspan BL, Ozel AB, Richards JE, Moroi SE, Hawthorne F, Budenz DL, Friedman DS, Gaasterland D, Haines J, Kang JH, Lee R, Lichter P, Liu Y, Pasquale LR, Pericak-Vance M, Realini A, Schuman JS, Singh K, Vollrath D, Weinreb R, Wollstein G, Zack DJ, Zhang K, Young T, Allingham RR, Wiggs JL, Ashley-Koch A, Hauser MA: Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia. Invest Ophthalmol Vis Sci. 2012, 38: 4468-74.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"571_CR28","doi-asserted-by":"publisher","first-page":"e1002711","DOI":"10.1371\/journal.pgen.1002711","volume":"8","author":"GG Galli","year":"2012","unstructured":"Galli GG, Honnens de Lichtenberg K, Carrara M, Hans W, Wuelling M, Mentz B, Multhaupt HA, Fog CK, Jensen KT, Rappsilber J, Vortkamp A, Coulton L, Fuchs H, Gailus-Durner V, Hrab\u011b de Angelis M, Calogero RA, Couchman JR, Lund AH: Prdm5 regulates collagen gene transcription by association with RNA polymerase II in developing bone. PLoS Genet. 2012, 8: e1002711-10.1371\/journal.pgen.1002711.","journal-title":"PLoS Genet"},{"key":"571_CR29","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1002\/ajmg.1320360303","volume":"36","author":"J Zlotogora","year":"1990","unstructured":"Zlotogora J, BenEzra D, Cohen T, Cohen E: Syndrome of brittle cornea, blue sclera, and joint hyperextensibility. Am J Med Genet. 1990, 36: 269-72. 10.1002\/ajmg.1320360303.","journal-title":"Am J Med Genet"},{"key":"571_CR30","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1097\/01.ico.0000244878.38621.fc","volume":"26","author":"MA Javadi","year":"2007","unstructured":"Javadi MA, Kanavi MR, Ahmadi M, Yazdani S: Outcomes of epikeratoplasty for advanced keratoglobus. Cornea. 2007, 26: 154-7. 10.1097\/01.ico.0000244878.38621.fc.","journal-title":"Cornea"},{"key":"571_CR31","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1016\/0002-9394(77)90621-3","volume":"83","author":"AW Biglan","year":"1977","unstructured":"Biglan AW, Brown SI, Johnson BL: Keratoglobus and blue sclera. Am J Ophthalmol. 1977, 83: 225-33.","journal-title":"Am J Ophthalmol"},{"key":"571_CR32","doi-asserted-by":"publisher","first-page":"885","DOI":"10.1097\/00003226-200111000-00022","volume":"20","author":"DH Jones","year":"2001","unstructured":"Jones DH, Kirkness CM: A new surgical technique for keratoglobus - tectonic lamellar keratoplasty followed by secondary penetrating keratoplasty. Cornea. 2001, 20: 885-7. 10.1097\/00003226-200111000-00022.","journal-title":"Cornea"},{"key":"571_CR33","doi-asserted-by":"publisher","first-page":"1024","DOI":"10.1097\/01.ico.0000157411.31566.a7","volume":"24","author":"AJ Kanellopoulos","year":"2005","unstructured":"Kanellopoulos AJ, Pe LH: An alternative surgical procedure for the management of keratoglobus. Cornea. 2005, 24: 1024-6. 10.1097\/01.ico.0000157411.31566.a7.","journal-title":"Cornea"},{"key":"571_CR34","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1097\/ICO.0b013e31822159f6","volume":"31","author":"A Caporossi","year":"2012","unstructured":"Caporossi A, Mazzotta C, Baiocchi S, Caporossi T, Denaro R, Balestrazzi A: Riboflavin-UVA-induced corneal collagen cross-linking in pediatric patients. Cornea. 2012, 31: 227-31. 10.1097\/ICO.0b013e31822159f6.","journal-title":"Cornea"},{"key":"571_CR35","doi-asserted-by":"publisher","first-page":"585","DOI":"10.1016\/j.ajo.2009.10.021","volume":"149","author":"A Caporossi","year":"2010","unstructured":"Caporossi A, Mazzotta C, Baiocchi S, Caporossi T: Long-term results of riboflavin ultraviolet a corneal collagen cross-linking for keratoconus in Italy: the Siena eye cross study. Am J Ophthalmol. 2010, 149: 585-93. 10.1016\/j.ajo.2009.10.021.","journal-title":"Am J Ophthalmol"},{"key":"571_CR36","doi-asserted-by":"publisher","first-page":"356","DOI":"10.1097\/01.icu.0000233954.86723.25","volume":"17","author":"G Wollensak","year":"2006","unstructured":"Wollensak G: Crosslinking treatment of progressive keratoconus: new hope. Curr Opin Ophthalmol. 2006, 17: 356-60. 10.1097\/01.icu.0000233954.86723.25.","journal-title":"Curr Opin Ophthalmol"},{"key":"571_CR37","doi-asserted-by":"publisher","first-page":"104","DOI":"10.1097\/00003226-200001000-00020","volume":"19","author":"MS Macsai","year":"2000","unstructured":"Macsai MS, Lemley HL, Schwartz T: Management of oculus fragilis in Ehlers-Danlos type VI. Cornea. 2000, 19: 104-7. 10.1097\/00003226-200001000-00020.","journal-title":"Cornea"},{"key":"571_CR38","doi-asserted-by":"publisher","first-page":"1489","DOI":"10.1001\/archopht.1976.03910040323006","volume":"94","author":"GF Judisch","year":"1976","unstructured":"Judisch GF, Waziri M, Krachmer JH: Ocular Ehlers-Danlos syndrome with normal lysyl hydroxylase activity. Arch Ophthalmol. 1976, 94: 1489-91. 10.1001\/archopht.1976.03910040323006.","journal-title":"Arch Ophthalmol"},{"key":"571_CR39","doi-asserted-by":"publisher","first-page":"308","DOI":"10.1086\/302504","volume":"65","author":"A Colige","year":"1999","unstructured":"Colige A, Sieron AL, Li S-W, Schwarze U, Petty E, Wertelecki W, Wilcox W, Krakow D, Cohn DH, Reardon W, Byers PH, Lapiere CM, Prockop DJ, Nusgens BV: Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. Am J Hum Genet. 1999, 65: 308-317. 10.1086\/302504.","journal-title":"Am J Hum Genet"},{"key":"571_CR40","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1016\/j.cell.2006.08.039","volume":"127","author":"R Morello","year":"2006","unstructured":"Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M, Castagnola P, Rauch F, Glorieux FH, Vranka J, Bachinger HP, Pace JM, Schwarze U, Byers PH, Weis M, Fernandes RJ, Eyre DR, Yao Z, Boyce BF, Lee B: CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell. 2006, 127: 291-304. 10.1016\/j.cell.2006.08.039.","journal-title":"Cell"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1750-1172-8-68.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T23:47:49Z","timestamp":1630540069000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/1750-1172-8-68"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,5,4]]},"references-count":40,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["571"],"URL":"https:\/\/doi.org\/10.1186\/1750-1172-8-68","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,5,4]]},"assertion":[{"value":"14 February 2013","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 April 2013","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 May 2013","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"68"}}