{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,4,17]],"date-time":"2024-04-17T05:42:31Z","timestamp":1713332551731},"reference-count":44,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":5573,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1990,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on two brothers with renal hypophosphatemia, intracerebral calcifications, minor facial anomalies, and short distal phalanges. The children presented with recurrent dental abscesses; one had premature closure of the anterior fontanelle. Biochemical findings included hypophosphatemia and elevated serum alkaline phosphatase with normocalcemia. Blood levels of parathyroid hormone, 1,25(OH)<jats:sub>2<\/jats:sub> and 25(OH) vitamin D levels were normal; TRP (the fractional tubular reabsorption of PO<jats:sub>4<\/jats:sub>) and TmP\/GFR (the tubular maximum rate of PO<jats:sub>4<\/jats:sub> reabsorption in relation to GFR) were low. Both parents had a normal serum phosphate and brain CT scan without evidence of calcifications.<\/jats:p><jats:p>This apparently new syndrome of renal hypophosphatemia associated with intracerebral calcifications appears to be inherited as either an autosomal recessive or an X\u2010linked trait.<\/jats:p>","DOI":"10.1002\/ajmg.1320350318","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:45:23Z","timestamp":1118547923000},"page":"406-414","source":"Crossref","is-referenced-by-count":6,"title":["Familial renal hypophosphatemia, minor facial anomalies, intracerebral calcifications, and non\u2010rachitic bone changes: Apparently new syndrome?"],"prefix":"10.1002","volume":"35","author":[{"given":"David","family":"Chitayat","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara 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