{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,30]],"date-time":"2026-03-30T14:20:33Z","timestamp":1774880433187,"version":"3.50.1"},"reference-count":7,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1991,2]]},"abstract":"<jats:p>We describe a newborn Arab male with defects similar to those seen in mice heterozygous for the mutant disorganisation (DS) gene. He had complete absence of the left lower limb including the left pelvic bone, hamartomas arising from the abdominal wall, a small penis, absent left half of the scrotal sac, absent left testicle, anterior displacement of the anus, and multiple vertebral defects. The similarity between the proband's anomalies and those found in affected heterozygotes for DS support the possibility of a human homologue of the DS gene.<\/jats:p>","DOI":"10.1136\/jmg.28.2.138","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"138-139","source":"Crossref","is-referenced-by-count":21,"title":["Human homologue for the mouse mutant disorganisation: does it exist?"],"prefix":"10.1136","volume":"28","author":[{"given":"K K","family":"Naguib","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M S","family":"Hamoud","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E S","family":"Khalil","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M Y","family":"el-Khalifa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1991,2,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1002\/jez.1401370303","article-title":"The inheritance and expression of disorganization, an unusual mutation in the mouse","volume":"137","author":"Hummel, K.P.","year":"1958","unstructured":"Hummel KP. The inheritance and expression of disorganization, an unusual mutation in the mouse. Exp Zool 1958;137: 389-423.","journal-title":"Exp Zool"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1136\/jmg.26.7.417","article-title":"A possible human homologue for the mouse mutant disorganisation","volume":"26","author":"Winter, R.; Donnai, D.","year":"1989","unstructured":"Winter R, Donnai D. A possible human homologue for the mouse mutant disorganisation. Med Genet 1989;26:417-20.","journal-title":"Med Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1136\/jmg.26.7.421","article-title":"Disorganisation: a model for 'early amnion rupture'?","volume":"26","author":"Donnai, D.; Winter, R.","year":"1989","unstructured":"Donnai D, Winter R. Disorganisation: a model for 'early amnion rupture'? 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Semin Perinatol 1983;7:274-7.","journal-title":"Semin Perinatol"},{"key":"ref_6","first-page":"486","article-title":"Recognizable patterns of human malformations","author":"Smith, D.W.","year":"1982","unstructured":"Smith DW. Recognizable patterns of human malformations. 3rd ed. Philadelphia: Saunders, 1982: 486-96.","edition":"3rd ed"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1136\/jmg.25.5.340","article-title":"Complete absence of external genitalia in limb-body wall complex: two cases","volume":"25","author":"Litwin, A.; Merlob, P.; Grunebaum, M.","year":"1988","unstructured":"Litwin A, Merlob P, Grunebaum M. Complete absence of external genitalia in limb-body wall complex: two cases. Med Genet 1988;25:340-3.","journal-title":"Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.28.2.138","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:04:54Z","timestamp":1760771094000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.28.2.138"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,2]]},"references-count":7,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1991,2,1]]},"published-print":{"date-parts":[[1991,2]]}},"alternative-id":["10.1136\/jmg.28.2.138"],"URL":"https:\/\/doi.org\/10.1136\/jmg.28.2.138","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,2]]}}}