{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,9]],"date-time":"2025-11-09T07:03:41Z","timestamp":1762671821847},"reference-count":43,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2012,4,17]],"date-time":"2012-04-17T00:00:00Z","timestamp":1334620800000},"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":[[2012,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Our aim was to characterize clinical findings and familial associations, and to examine candidate genes for disease\u2010causing mutations in a cohort of children suffering from primary osteoporosis without features of osteogenesis imperfecta. Patients with osteoporosis and their nuclear families were studied. Medical history was reviewed. Calcium homeostasis parameters were measured and spinal radiographs obtained. BMD was determined by DXA for patients, parents and siblings. <jats:italic>LRP5<\/jats:italic>, <jats:italic>LRP6<\/jats:italic>, and <jats:italic>PTHLH<\/jats:italic> genes were sequenced. Twenty\u2010seven patients (14 males) from 24 families were recruited. Median age at presentation was 10.1 years (range 3.3\u201315.6 years). One\u2010third of the children had at least one parent with a BMD below the expected range for age. <jats:italic>LRP5<\/jats:italic>, <jats:italic>LRP6<\/jats:italic>, and <jats:italic>PTHLH<\/jats:italic> showed no causative mutations. Four polymorphisms in <jats:italic>LRP5<\/jats:italic> were overrepresented in patients; the minor allele frequency of Q89R, V667M, N740N, and A1330V was significantly higher than in controls. Age of onset, clinical severity, and inheritance patterns are variable in children with primary osteoporosis. Several patients had evidence suggestive of familial transmission. The underlying genetic factors remain to be elucidated. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35278","type":"journal-article","created":{"date-parts":[[2012,4,17]],"date-time":"2012-04-17T15:20:00Z","timestamp":1334676000000},"page":"1252-1261","source":"Crossref","is-referenced-by-count":12,"title":["Primary osteoporosis without features of OI in children and adolescents: Clinical and genetic characteristics"],"prefix":"10.1002","volume":"158A","author":[{"given":"Christine M.","family":"Laine","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dror","family":"Koltin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miki","family":"Susic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Talia 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