{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:05:20Z","timestamp":1761717920833},"reference-count":32,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2003,10,24]],"date-time":"2003-10-24T00:00:00Z","timestamp":1066953600000},"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":[[2004,4,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a newborn girl with a de novo terminal 4q deletion (q31.3\u2009\u2192\u2009qter) and a characteristic phenotype of minor facial anomalies, cleft palate, congenital heart defect, abnormalities of hands and feet, and postnatal onset of growth deficiency. Laboratory studies showed excessive urinary calcium excretion on standard milk formula and on oral calcium load. Blood measurements of parathyroid hormone, calcitonin, bicarbonate, calcium, phosphorus, magnesium, sodium, chlorine, potassium, and urinary measurements of phosphorus, magnesium, sodium, chlorine, potassium were normal for age. At 2 months of life, ultrasonography showed kidney calcifications. Clinical and laboratory data support the diagnosis of absorptive hypercalciuria or abnormal regulation of calcium\u2010sensing receptors in the renal tubules. The evidence of hypercalciuria and kidney calcifications associated with 4q terminal deletion strengthens the hypothesis that a putative gene for hypercalciuria is located on the terminal segment of chromosome 4q. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20561","type":"journal-article","created":{"date-parts":[[2004,3,26]],"date-time":"2004-03-26T16:16:05Z","timestamp":1080317765000},"page":"186-190","source":"Crossref","is-referenced-by-count":16,"title":["Hypercalciuria and kidney calcifications in terminal 4q deletion syndrome: Further evidence for a putative gene on 4q"],"prefix":"10.1002","volume":"126A","author":[{"given":"Mario","family":"Giuffr\u00e8","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simona La","family":"Placa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maurizio","family":"Carta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonella","family":"Cataliotti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Marino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Piccione","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Pusateri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ferdinando","family":"Meli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Corsello","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,10,24]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1997.tb02467.x"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1997.tb02528.x"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320130321"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.10.652"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320090205"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00008480-199808000-00019"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330217"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1996.tb02733.x"},{"key":"e_1_2_4_10_1","first-page":"139","article-title":"Terminal deletion of the long arm of chromosome 4: Patient report and literature review","volume":"4","author":"Evers LJ","year":"1993","journal-title":"Genet Couns"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004670050366"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0929-693X(00)00260-8"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980616)78:1<52::AID-AJMG10>3.0.CO;2-N"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(2000)9999:999<00::AID-AJMG1134>3.0.CO;2-D"},{"key":"e_1_2_4_15_1","first-page":"905","article-title":"\u00c9valuation du rapport calcium\/cr\u00e9atinine urinaire chez le nourrisson et le nouveau\u2010n\u00e9 \u00e0 terme et pr\u00e9mature","volume":"48","author":"Lavocat MP","year":"1993","journal-title":"P\u00e9diatrie"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310308"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440532"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320080110"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.42.224.428"},{"key":"e_1_2_4_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00858966"},{"key":"e_1_2_4_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1998.tb02585.x"},{"key":"e_1_2_4_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(73)93180-2"},{"key":"e_1_2_4_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441212"},{"key":"e_1_2_4_24_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.4.259"},{"key":"e_1_2_4_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb00748.x"},{"key":"e_1_2_4_26_1","first-page":"327","article-title":"The 4q\u2010syndrome","volume":"12","author":"Strehle EM","year":"2001","journal-title":"Genet Couns"},{"key":"e_1_2_4_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb01851.x"},{"key":"e_1_2_4_28_1","first-page":"383","article-title":"4q\u2010syndrome","volume":"133","author":"Townes PL","year":"1979","journal-title":"Am J Dis Child"},{"key":"e_1_2_4_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990212)82:4<336::AID-AJMG11>3.0.CO;2-I"},{"key":"e_1_2_4_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140221"},{"key":"e_1_2_4_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320120114"},{"key":"e_1_2_4_32_1","first-page":"158","article-title":"Terminal deletion of the long arm of chromosome 4. Report of a case of 46,XY,del(4)(q31) and review of 4q\u2010syndrome","volume":"24","author":"Yu CW","year":"1981","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_4_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990910)86:2<197::AID-AJMG22>3.0.CO;2-0"}],"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.20561","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20561","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T04:33:49Z","timestamp":1700195629000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20561"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,10,24]]},"references-count":32,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2004,4,15]]}},"alternative-id":["10.1002\/ajmg.a.20561"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20561","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,10,24]]}}}