{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T07:37:42Z","timestamp":1775720262407,"version":"3.50.1"},"reference-count":29,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2000,4,1]]},"abstract":"<jats:p>Camurati-Engelmann disease, progressive diaphyseal dysplasia, or diaphyseal dysplasia Camurati-Engelmann is a rare, autosomal dominantly inherited bone disease, characterised by progressive cortical expansion and sclerosis mainly affecting the diaphyses of the long bones associated with cranial hyperostosis. The main clinical features are severe pain in the legs, muscular weakness, and a waddling gait. The underlying cause of this condition remains unknown.<\/jats:p>\n               <jats:p>In order to localise the disease causing gene, we performed a linkage study in a large Jewish-Iraqi family with 18 affected subjects in four generations. A genome wide search with highly polymorphic markers showed linkage with several markers at chromosome 19q13. A maximum lod score of 4.9 (\u03b8=0) was obtained with markers D19S425 (58.7 cM, 19q13.1) and D19S900 (67.1 cM, 19q13.2). The disease causing gene is located in a candidate region of approximately 32 cM, flanked by markers D19S868 (55.9 cM, 19q13.1) and D19S571 (87.7 cM, 19q13.4).<\/jats:p>","DOI":"10.1136\/jmg.37.4.245","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T06:38:40Z","timestamp":1027751920000},"page":"245-249","source":"Crossref","is-referenced-by-count":36,"title":["Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13"],"prefix":"10.1136","volume":"37","author":[{"given":"Katrien","family":"Janssens","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruth","family":"Gershoni-Baruch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Els","family":"Van Hul","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Riva","family":"Brik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nuria","family":"Gua\u00f1abens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicola","family":"Migone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leon A","family":"Verbruggen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stuart H","family":"Ralston","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maryse","family":"Bonduelle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lionel","family":"Van Maldergem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filip","family":"Vanhoenacker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wim","family":"Van Hul","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2000,4,1]]},"reference":[{"key":"2025101711413250000_37.4.245.1","first-page":"132","article-title":"Case for diagnosis.","volume":"13","author":"Cockayne","year":"1920","journal-title":"Proc R Soc Med"},{"key":"2025101711413250000_37.4.245.2","first-page":"662","article-title":"Di un raro caso di osteite simmetrica ereditaria degli arti inferiori.","volume":"6","author":"Camurati","year":"1922","journal-title":"Chir Organi Mov"},{"key":"2025101711413250000_37.4.245.3","first-page":"1101","article-title":"Ein fall von ostheopathia hyperostotica (sclerotisans) multiplex infantilis.","volume":"39","author":"Engelmann","year":"1929","journal-title":"Forschr Gebiete R\u00f6ntgenstr Nuklearmed"},{"key":"2025101711413250000_37.4.245.4","doi-asserted-by":"publisher","DOI":"10.1148\/51.1.11"},{"key":"2025101711413250000_37.4.245.5","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1148\/radiology.164.3.3615880","article-title":"Progressive diaphyseal dysplasia (Camurati-Engelmann): radiographic follow-up and CT findings.","volume":"164","author":"Kaftori","year":"1987","journal-title":"Radiology"},{"key":"2025101711413250000_37.4.245.6","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981012)79:5<376::AID-AJMG9>3.0.CO;2-H"},{"key":"2025101711413250000_37.4.245.7","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.9.1.73"},{"key":"2025101711413250000_37.4.245.8","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1177\/000348949510401013","article-title":"Vestibular nerve compression in Camurati-Engelmann disease.","volume":"104","author":"Hanson","year":"1995","journal-title":"Ann Otol Rhinol Laryngol"},{"key":"2025101711413250000_37.4.245.9","doi-asserted-by":"publisher","DOI":"10.1007\/s002239900293"},{"key":"2025101711413250000_37.4.245.10","doi-asserted-by":"publisher","DOI":"10.1007\/s003300050648"},{"key":"2025101711413250000_37.4.245.11","doi-asserted-by":"publisher","DOI":"10.1007\/s003300050952"},{"key":"2025101711413250000_37.4.245.12","doi-asserted-by":"publisher","DOI":"10.1007\/BF01106087"},{"key":"2025101711413250000_37.4.245.13","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1542\/peds.74.3.399","article-title":"Progressive diaphyseal dysplasia: genetics and clinical and radiologic manifestations.","volume":"74","author":"Naveh","year":"1984","journal-title":"Pediatrics"},{"key":"2025101711413250000_37.4.245.14","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970822)71:3<348::AID-AJMG17>3.0.CO;2-K"},{"key":"2025101711413250000_37.4.245.15","doi-asserted-by":"publisher","DOI":"10.1038\/380152a0"},{"key":"2025101711413250000_37.4.245.16","first-page":"460","article-title":"Easy calculations of lod scores and genetic risks on small computers.","volume":"36","author":"Lathrop","year":"1984","journal-title":"Am J Hum Genet"},{"key":"2025101711413250000_37.4.245.17","doi-asserted-by":"crossref","first-page":"2752","DOI":"10.1073\/pnas.80.9.2752","article-title":"Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.","volume":"9","author":"Sly","year":"1983","journal-title":"Proc Natl Acad Sci USA"},{"key":"2025101711413250000_37.4.245.18","doi-asserted-by":"publisher","DOI":"10.1126\/science.273.5279.1236"},{"key":"2025101711413250000_37.4.245.19","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1086\/514844","article-title":"Localization of a gene for autosomal dominant osteopetrosis (Albers-Sch\u00f6nberg disease) to chromosome 1p21.","volume":"61","author":"Van Hul","year":"1997","journal-title":"Am J Hum Genet"},{"key":"2025101711413250000_37.4.245.20","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.9.1407"},{"key":"2025101711413250000_37.4.245.21","doi-asserted-by":"publisher","DOI":"10.1086\/301721"},{"key":"2025101711413250000_37.4.245.22","doi-asserted-by":"publisher","DOI":"10.1086\/302416"},{"key":"2025101711413250000_37.4.245.23","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/S0889-8529(18)30342-6","article-title":"Heritable metabolic and dysplastic bone diseases.","volume":"19","author":"Whyte","year":"1990","journal-title":"Endocrinol Metab Clin North Am"},{"key":"2025101711413250000_37.4.245.24","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/S8756-3282(99)00105-2","article-title":"Required and nonessential functions of nuclear factor-kappa B in bone cells.","volume":"25","author":"Boyce","year":"1999","journal-title":"Bone"},{"key":"2025101711413250000_37.4.245.25","doi-asserted-by":"publisher","DOI":"10.1038\/358597a0"},{"key":"2025101711413250000_37.4.245.26","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1172\/JCI113318","article-title":"Growth factors and the regulation of bone remodeling.","volume":"81","author":"Canalis","year":"1988","journal-title":"J Clin Invest"},{"key":"2025101711413250000_37.4.245.27","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.29.18459"},{"key":"2025101711413250000_37.4.245.28","doi-asserted-by":"publisher","DOI":"10.1210\/en.140.6.2439"},{"key":"2025101711413250000_37.4.245.29","doi-asserted-by":"publisher","DOI":"10.1210\/en.133.5.2187"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.37.4.245","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T18:41:39Z","timestamp":1760726499000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.37.4.245"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,4,1]]},"references-count":29,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2000,4,1]]},"published-print":{"date-parts":[[2000,4,1]]}},"alternative-id":["10.1136\/jmg.37.4.245"],"URL":"https:\/\/doi.org\/10.1136\/jmg.37.4.245","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2000,4,1]]}}}