{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,26]],"date-time":"2025-12-26T14:44:24Z","timestamp":1766760264876},"reference-count":19,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2015,11,12]],"date-time":"2015-11-12T00:00:00Z","timestamp":1447286400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2015,11,12]],"date-time":"2015-11-12T00:00:00Z","timestamp":1447286400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2016,3]]},"DOI":"10.1038\/jhg.2015.133","type":"journal-article","created":{"date-parts":[[2015,11,12]],"date-time":"2015-11-12T12:34:16Z","timestamp":1447331656000},"page":"223-227","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["A de novo mosaic mutation of PHEX in a boy with hypophosphatemic rickets"],"prefix":"10.1038","volume":"61","author":[{"given":"Chen","family":"Weng","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiao","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhong-Wei","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xue","family":"Feng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun-Hui","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ling-Ping","family":"Lu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ping","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ming","family":"Qi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2015,11,12]]},"reference":[{"key":"BFjhg2015133_CR1","doi-asserted-by":"publisher","first-page":"491","DOI":"10.1530\/EJE-08-0818","volume":"160","author":"SS Beck-Nielsen","year":"2009","unstructured":"Beck-Nielsen, S. S., Brock-Jacobsen, B., Gram, J., Brixen, K. & Jensen, T. K. Incidence and prevalence of nutritional and hereditary rickets in southern Denmark. Eur. J. Endocrinol. 160, 491\u2013497 (2009).","journal-title":"Eur. J. Endocrinol."},{"key":"BFjhg2015133_CR2","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1007\/s00439-009-0631-z","volume":"125","author":"C Gaucher","year":"2009","unstructured":"Gaucher, C., Walrant-Debray, O., Nguyen, T.-M., Esterle, L., Garabedian, M. & Jehan, F. PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets. Hum. Genet. 125, 401\u2013411 (2009).","journal-title":"Hum. Genet."},{"key":"BFjhg2015133_CR3","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1097\/00004770-200404000-00015","volume":"30","author":"CM Pereira","year":"2004","unstructured":"Pereira, C. M., de Andrade, C. R., Vargas, P. A., Della Coletta, R., de Almeida, O. P. & Lopes, M. A. Dental alterations associated with X-linked hypophosphatemic rickets. J. Endod. 30, 241\u2013245 (2004).","journal-title":"J. Endod."},{"key":"BFjhg2015133_CR4","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1681\/ASN.V132394","volume":"13","author":"NR Shih","year":"2002","unstructured":"Shih, N. R., Jo, O. D. & Yanagawa, N. Effects of PHEX antisense in human osteoblast cells. J. Am. Soc. Nephrol. 13, 394\u2013399 (2002).","journal-title":"J. Am. Soc. Nephrol."},{"key":"BFjhg2015133_CR5","doi-asserted-by":"publisher","first-page":"635","DOI":"10.1006\/bbrc.1997.6153","volume":"231","author":"M Grieff","year":"1997","unstructured":"Grieff, M., Mumm, S., Waeltz, P., Mazzarella, R., Whyte, M. P., Thakker, R. V. et al. Expression and cloning of the human X-linked hypophosphatemia gene cDNA. Biochem. Biophys. Res. Commun. 231, 635\u2013639 (1997).","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"BFjhg2015133_CR6","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1093\/nar\/gkp215","volume":"37","author":"F-O Desmet","year":"2009","unstructured":"Desmet, F.-O., Hamroun, D., Lalande, M., Collod-B\u00e9roud, G., Claustres, M. & B\u00e9roud, C. Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res. 37, 67 (2009).","journal-title":"Nucleic Acids Res."},{"key":"BFjhg2015133_CR7","doi-asserted-by":"publisher","first-page":"674","DOI":"10.1210\/jcem.82.2.3765","volume":"82","author":"M Econs","year":"1997","unstructured":"Econs, M. & McEnery, P. Autosomal dominant hypophosphatemic rickets\/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder. J. Clin. Endocrinol. Metab. 82, 674\u2013681 (1997).","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"BFjhg2015133_CR8","doi-asserted-by":"publisher","first-page":"1248","DOI":"10.1038\/ng1868","volume":"38","author":"B Lorenz-Depiereux","year":"2006","unstructured":"Lorenz-Depiereux, B, Bastepe, M, Benet-Pag\u00e8s, A, Amyere, M, Wagenstaller, J, M\u00fcller-Barth, U et al. DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Nat. Genet. 38, 1248\u20131250 (2006).","journal-title":"Nat. Genet."},{"key":"BFjhg2015133_CR9","doi-asserted-by":"publisher","first-page":"911","DOI":"10.1038\/ki.1997.412","volume":"52","author":"N Akuta","year":"1997","unstructured":"Akuta, N., Lloyd, S. E., Igarashi, T., Shiraga, H., Matsuyama, T., Yokoro, S. et al. Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis. Kidney Int. 52, 911\u2013916 (1997).","journal-title":"Kidney Int."},{"key":"BFjhg2015133_CR10","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1186\/1471-2350-12-116","volume":"12","author":"M Morey","year":"2011","unstructured":"Morey, M., Castro-Feij\u00f3o, L., Barreiro, J., Cabanas, P., Pombo, M., Gil, M. et al. Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1, 25 (OH) 2D serum levels are associated with PHEX mutation type. BMC Med. Genet. 12, 116 (2011).","journal-title":"BMC Med. Genet."},{"key":"BFjhg2015133_CR11","doi-asserted-by":"publisher","first-page":"3889","DOI":"10.1210\/jcem.86.8.7761","volume":"86","author":"IA Holm","year":"2001","unstructured":"Holm, I. A., Nelson, A. E., Robinson, B. G., Mason, R. S., Marsh, D. J., Cowell, C. T. et al. Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets. J. Clin. Endocrinol. Metab. 86, 3889\u20133899 (2001).","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"BFjhg2015133_CR12","unstructured":"Sabbagh, Y., Tenenhouse, H., Econs, M. & Auricchio, A. The Online Metabolic and Molecular Bases of Inherited Disease (OMMBID) (eds Valle, D., Beaudet, A., Vogelstein, B., Kinzler, K., Antonarakis, S., Ballabio, A., emeritus eds Scriver, C.R., Childs, B., Sly, W.S.) (Available online, 2014)."},{"key":"BFjhg2015133_CR13","doi-asserted-by":"publisher","first-page":"286","DOI":"10.1016\/j.bone.2012.10.012","volume":"52","author":"E Durmaz","year":"2013","unstructured":"Durmaz, E., Zou, M., Al-Rijjal, R. A., Baitei, E. Y., Hammami, S., Bircan, I. et al. Novel and de novo PHEX mutations in patients with hypophosphatemic rickets. Bone 52, 286\u2013291 (2013).","journal-title":"Bone"},{"key":"BFjhg2015133_CR14","doi-asserted-by":"publisher","first-page":"842","DOI":"10.1177\/0883073809350722","volume":"25","author":"X Zhu","year":"2010","unstructured":"Zhu, X., Li, M., Pan, H., Bao, X., Zhang, J. & Wu, X. Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in 24 sporadic patients with Rett syndrome in China. J. Child Neurol. 25, 842\u2013848 (2010).","journal-title":"J. Child Neurol."},{"key":"BFjhg2015133_CR15","doi-asserted-by":"publisher","first-page":"1237758","DOI":"10.1126\/science.1237758","volume":"341","author":"A Poduri","year":"2013","unstructured":"Poduri, A., Evrony, G. D., Cai, X. & Walsh, C. A. Somatic mutation, genomic variation, and neurological disease. Science 341, 1237758 (2013).","journal-title":"Science"},{"key":"BFjhg2015133_CR16","doi-asserted-by":"publisher","first-page":"1042","DOI":"10.1212\/WNL.61.8.1042","volume":"61","author":"F Sicca","year":"2003","unstructured":"Sicca, F., Kelemen, A., Genton, P., Das, S., Mei, D., Moro, F. et al. Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. Neurology 61, 1042\u20131046 (2003).","journal-title":"Neurology"},{"key":"BFjhg2015133_CR17","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1210\/jc.2005-1776","volume":"91","author":"K Goji","year":"2006","unstructured":"Goji, K., Ozaki, K., Sadewa, A. H., Nishio, H. & Matsuo, M. Somatic and germline mosaicism for a mutation of the PHEX gene can lead to genetic transmission of x-linked hypophosphatemic rickets that mimics an autosomal dominant trait. J. Clin. Endocrinol. Metab. 91, 365\u2013370 (2006).","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"BFjhg2015133_CR18","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1007\/s00223-013-9736-4","volume":"93","author":"S Ichikawa","year":"2013","unstructured":"Ichikawa, S., Gray, A. K., Bikorimana, E. & Econs, M. J. Dosage effect of a Phex mutation in a murine model of X-linked hypophosphatemia. Calcif. Tissue Int. 93, 155\u2013162 (2013).","journal-title":"Calcif. Tissue Int."},{"key":"BFjhg2015133_CR19","doi-asserted-by":"publisher","first-page":"647","DOI":"10.1530\/EJE-09-0261","volume":"161","author":"T Saito","year":"2009","unstructured":"Saito, T., Nishii, Y., Yasuda, T., Ito, N., Suzuki, H., Igarashi, T. et al. Familial hypophosphatemic rickets caused by a large deletion in PHEX gene. Eur. J. Endocrinol. 161, 647\u2013651 (2009).","journal-title":"Eur. J. Endocrinol."}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/jhg2015133.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg2015133","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg2015133.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:34:00Z","timestamp":1684431240000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/jhg2015133"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,11,12]]},"references-count":19,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016,3]]}},"alternative-id":["BFjhg2015133"],"URL":"https:\/\/doi.org\/10.1038\/jhg.2015.133","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,11,12]]},"assertion":[{"value":"10 July 2015","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 September 2015","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 October 2015","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 November 2015","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}]}}