{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T01:51:11Z","timestamp":1785376271568,"version":"3.55.0"},"reference-count":22,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2011,2,22]],"date-time":"2011-02-22T00:00:00Z","timestamp":1298332800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2011,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is characterized by rickets, hyperphosphaturia, hypophosphatemia, elevated 1,25\u2010dihydroxyvitamin\u2010D, increased gastrointestinal calcium absorption and hypercalciuria. Serum calcium, 25\u2010hydroxyvitamin\u2010D and PTH levels are normal. Here we describe a boy with HHRH, nephrolithiasis, and compound heterozygosity for one previously described mutation (g.4225_50del) and a novel splice mutation (g.1226G&gt;A) in SLC34A3, the gene encoding the renal sodium\u2010phosphate co\u2010transporter NaPi\u2010IIc. The patient's mother and grandmother are carriers of g.4225_50del, and both have a history of nephrolithiasis associated with hypercalciuria and elevated 1,25\u2010dihydroxyvitamin\u2010D. His three siblings (2\u20136 years old), who are also carriers of g.4225_50del, have hypercalciuria but so far their renal ultrasounds are normal. Thus, SLC34A3\/NaPi\u2010IIc mutations appear to be associated with variable phenotypic changes at presentation, which can include recurrent nephrolithiasis. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33832","type":"journal-article","created":{"date-parts":[[2011,2,23]],"date-time":"2011-02-23T17:40:57Z","timestamp":1298482857000},"page":"626-633","source":"Crossref","is-referenced-by-count":23,"title":["Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis\u2014Identification of a novel SLC34A3\/NaPi\u2010IIc mutation"],"prefix":"10.1002","volume":"155","author":[{"given":"Priya","family":"Phulwani","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clemens","family":"Bergwitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graciana","family":"Jaureguiberry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Majjid","family":"Rasoulpour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Estrada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,2,22]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00865491"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/499409"},{"key":"e_1_2_8_4_1","first-page":"163","article-title":"Postnatal development of tubular phosphate reabsorption","volume":"17","author":"Brodehl J","year":"1982","journal-title":"Clin Nephrol"},{"key":"e_1_2_8_5_1","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1542\/peds.84.2.276","article-title":"Hypercalciuric hypophosphatemic rickets, mineral balance, bone histomorphometry, and therapeutic implications of hypercalciuria","volume":"84","author":"Chen C","year":"1989","journal-title":"Pediatrics"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI119809"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1905"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-2840"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajprenal.00090.2008"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng917"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1076716"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.01.010"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/379445a0"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1868"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1086\/499410"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.01.006"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02411222"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004670000510"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-1535"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198503073121003"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1159\/000187029"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1159\/000187395"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajprenal.00228.2007"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.33832","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33832","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T03:08:18Z","timestamp":1696993698000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33832"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,2,22]]},"references-count":22,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2011,3]]}},"alternative-id":["10.1002\/ajmg.a.33832"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33832","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,2,22]]}}}