{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,6]],"date-time":"2025-08-06T13:23:41Z","timestamp":1754486621958},"reference-count":19,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Transl Med"],"published-print":{"date-parts":[[2015,12]]},"DOI":"10.1186\/s12967-015-0534-9","type":"journal-article","created":{"date-parts":[[2015,6,3]],"date-time":"2015-06-03T22:59:31Z","timestamp":1433372371000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X-linked hypophosphatemia"],"prefix":"10.1186","volume":"13","author":[{"given":"Xunlun","family":"Sheng","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xue","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bo","family":"Lei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rui","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fangxia","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weining","family":"Rong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruoshui","family":"Ha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yani","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feng","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peizeng","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2015,6,4]]},"reference":[{"key":"534_CR1","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1136\/hrt.2006.098798","volume":"93","author":"Y Kodolitsch von","year":"2007","unstructured":"von Kodolitsch Y, Robinson PN (2007) Marfan syndrome: an update of genetics, medical and surgical management. Heart 93:755\u2013760","journal-title":"Heart"},{"key":"534_CR2","unstructured":"Dietz HC (1993) Marfan Syndrome. GeneReviews. University of Washington, Seattle. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1335\/"},{"key":"534_CR3","first-page":"751","volume":"19","author":"F Zhao","year":"2013","unstructured":"Zhao F, Pan X, Zhao K, Zhao C (2013) Two novel mutations of fibrillin-1 gene correlate with different phenotypes of Marfan syndrome in Chinese families. Mol Vis 19:751\u2013758","journal-title":"Mol Vis"},{"key":"534_CR4","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1038\/ng1392","volume":"36","author":"T Mizuguchi","year":"2004","unstructured":"Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M, Harada N, Morisaki T et al (2004) Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet 36:855\u2013860","journal-title":"Nat Genet"},{"key":"534_CR5","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1038\/81664","volume":"26","author":"KE White","year":"2000","unstructured":"White KE, Evans WE, O\u2019Riordan JL, Speer MC, Econs MJ, Lorenz-Depiereux B et al (2000) Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nat Genet 26:345\u2013348","journal-title":"Nat Genet"},{"key":"534_CR6","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1038\/ng1868","volume":"38","author":"B Lorenz-Depiereux","year":"2006","unstructured":"Lorenz-Depiereux B, Bastepe M, Benet-Pages A, Amyere M, Wagenstaller J, Muller-Barth U et al (2006) DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Nat Genet 38:1248\u20131250","journal-title":"Nat Genet"},{"key":"534_CR7","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1016\/j.ajhg.2010.01.010","volume":"86","author":"V Levy-Litan","year":"2010","unstructured":"Levy-Litan V, Hershkovitz E, Avizov L, Leventhal N, Bercovich D, Chalifa-Caspi V et al (2010) Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. Am J Hum Genet 86:273\u2013278","journal-title":"Am J Hum Genet"},{"key":"534_CR8","doi-asserted-by":"crossref","first-page":"36","DOI":"10.6065\/apem.2014.19.1.36","volume":"19","author":"CK Cheon","year":"2014","unstructured":"Cheon CK, Lee HS, Kim SY, Kwak MJ, Kim GH, Yoo HW (2014) A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature. Ann Pediatr Endocrinol Metab 19:36\u201341","journal-title":"Ann Pediatr Endocrinol Metab"},{"key":"534_CR9","unstructured":"Ruppe MD (1993) X-Linked Hypophosphatemia. GeneReviews. University of Washington, Seattle. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK83985\/"},{"key":"534_CR10","doi-asserted-by":"crossref","first-page":"1135","DOI":"10.1038\/nbt1486","volume":"26","author":"J Shendure","year":"2008","unstructured":"Shendure J, Ji H (2008) Next-generation DNA sequencing. Nat Biotechnol 26:1135\u20131145","journal-title":"Nat Biotechnol"},{"key":"534_CR11","doi-asserted-by":"crossref","first-page":"e97808","DOI":"10.1371\/journal.pone.0097808","volume":"9","author":"W Rong","year":"2014","unstructured":"Rong W, Chen X, Zhao K, Liu Y, Liu X, Ha S et al (2014) Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2. PLoS One 9:e97808","journal-title":"PLoS One"},{"key":"534_CR12","doi-asserted-by":"crossref","first-page":"2926","DOI":"10.1093\/hmg\/ddu005","volume":"23","author":"X Chen","year":"2014","unstructured":"Chen X, Liu Y, Sheng X, Tam PO, Zhao K, Rong W et al (2014) PRPF4 mutations cause autosomal dominant retinitis pigmentosa. Hum Mol Genet 23:2926\u20132939","journal-title":"Hum Mol Genet"},{"key":"534_CR13","doi-asserted-by":"crossref","first-page":"e105439","DOI":"10.1371\/journal.pone.0105439","volume":"9","author":"X Chen","year":"2014","unstructured":"Chen X, Sheng X, Liu X, Li H, Liu Y, Rong W (2014) Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis. PLoS One 9:e105439","journal-title":"PLoS One"},{"key":"534_CR14","first-page":"770","volume":"20","author":"X Pan","year":"2014","unstructured":"Pan X, Chen X, Liu X, Gao X, Kang X, Xu Q et al (2014) Mutation analysis of pre-mRNA splicing genes in Chinese families with retinitis pigmentosa. Mol Vis 20:770\u2013779","journal-title":"Mol Vis"},{"key":"534_CR15","doi-asserted-by":"crossref","first-page":"2186","DOI":"10.1167\/iovs.12-10967","volume":"54","author":"X Chen","year":"2013","unstructured":"Chen X, Zhao K, Sheng X, Li Y, Gao X, Zhang X et al (2013) Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases. Invest Ophthalmol Vis Sci 54:2186\u20132197","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"534_CR16","doi-asserted-by":"crossref","first-page":"4158","DOI":"10.1167\/iovs.13-11672","volume":"54","author":"Q Fu","year":"2013","unstructured":"Fu Q, Wang F, Wang H, Xu F, Zaneveld JE, Ren H et al (2013) Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci 54:4158\u20134166","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"534_CR17","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1007\/s00439-006-0168-3","volume":"119","author":"C Zhao","year":"2006","unstructured":"Zhao C, Lu S, Zhou X, Zhang X, Zhao K, Larsson C (2006) A novel locus (RP33) for autosomal dominant retinitis pigmentosa mapping to chromosomal region 2cen-q12.1. Hum Genet 119:617\u2013623","journal-title":"Hum Genet"},{"key":"534_CR18","first-page":"790","volume":"60","author":"IA Holm","year":"1997","unstructured":"Holm IA, Huang X, Kunkel LM (1997) Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. Am J Hum Genet 60:790\u2013797","journal-title":"Am J Hum Genet"},{"key":"534_CR19","doi-asserted-by":"crossref","first-page":"2353","DOI":"10.1126\/science.1078124","volume":"298","author":"G Rudenko","year":"2002","unstructured":"Rudenko G, Henry L, Henderson K, Ichtchenko K, Brown MS, Goldstein JL et al (2002) Structure of the LDL receptor extracellular domain at endosomal pH. Science 298:2353\u20132358","journal-title":"Science"}],"container-title":["Journal of Translational Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12967-015-0534-9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,6,23]],"date-time":"2017-06-23T08:56:37Z","timestamp":1498208197000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.translational-medicine.com\/content\/13\/1\/179"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,6,4]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,12]]}},"alternative-id":["534"],"URL":"https:\/\/doi.org\/10.1186\/s12967-015-0534-9","relation":{},"ISSN":["1479-5876"],"issn-type":[{"value":"1479-5876","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,6,4]]},"article-number":"179"}}