{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T15:38:22Z","timestamp":1760888302418,"version":"build-2065373602"},"reference-count":8,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1975,3]]},"abstract":"<jats:p>We report a case of hyalinosis cutis et mucosae, a rare disorder of hyalin deposition in skin and mucous membranes, in a 27-year-old male, whose coefficient of inbreeding was 0-0106 due to seven common ancestors, including an aunt of an early American president, in the eight preceding generations.<\/jats:p>","DOI":"10.1136\/jmg.12.1.110","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"110-112","source":"Crossref","is-referenced-by-count":9,"title":["A case of hyalinosis cutis et mucosae (lipoid proteinosis of Urbach and Wiethe) with common ancestors in four remote generations."],"prefix":"10.1136","volume":"12","author":[{"given":"R C","family":"Juberg","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P R","family":"Winder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L L","family":"Turk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1975,3,1]]},"reference":[{"key":"ref_1","article-title":"years and found it to be autosomal recessive (Heyl, 1963). As a matter of fact, the disorder has been reported from South Africa more commonly than","volume-title":"The mode of inheritance has seemed apparent from the lack of direct transmission, the frequency of affected sibs, and the commonness of parental consanguinity. There is as yet no evidence of genetic heterogeneity in spite","author":"anywhere else (Gordon, Gordon; Botha, 1969","unstructured":"years and found it to be autosomal recessive (Heyl, 1963). As a matter of fact, the disorder has been reported from South Africa more commonly than from anywhere else (Gordon, Gordon, and Botha, 1969). The mode of inheritance has seemed apparent from the lack of direct transmission, the frequency of affected sibs, and the commonness of parental consanguinity. There is as yet no evidence of genetic heterogeneity in spite"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1032","DOI":"10.1016\/S0140-6736(69)91827-3","article-title":"Lipoid proteinosis in an inbred Namaqualand community","volume":"1","author":"Gordon, H.; Gordon, W.; Botha, V.","year":"1969","unstructured":"Gordon, H., Gordon, W., and Botha, V. (1969). Lipoid proteinosis in an inbred Namaqualand community. Lancet, 1, 1032-1035.","journal-title":"Lancet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1111\/j.1365-2133.1963.tb13929.x","article-title":"Lipoid proteinosis I: the clinical picture","volume":"75","author":"Heyl, T.","year":"1963","unstructured":"Heyl, T. (1963). Lipoid proteinosis I: the clinical picture. British Journal of Dermatology, 75, 465-472.","journal-title":"British Journal of Dermatology"},{"key":"ref_4","article-title":"Genealogical study of lipoid proteinosis in South","author":"Heyl, T.","year":"1970","unstructured":"Heyl, T. (1970). Genealogical study of lipoid proteinosis in South"},{"key":"ref_5","first-page":"338","volume":"83","author":"Africa","unstructured":"Africa. British Journal of Dermatology, 83, 338-340.","journal-title":"British Journal of Dermatology"},{"key":"ref_6","article-title":"Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotvpes","author":"McKusick, V.A.","year":"1971","unstructured":"McKusick, V. A. (1971). Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotvpes, 3rd edition. Johns Hopkins Press, Baltimore.","edition":"3rd edition"},{"key":"ref_7","first-page":"1120","article-title":"Lipoid proteinosis. Case report of direct lineal transmission","volume":"64","author":"Rosenthal, A.R.; Duke, J.R.","year":"1967","unstructured":"Rosenthal, A. R. and Duke, J. R. (1967). Lipoid proteinosis. Case report of direct lineal transmission. American J7ournal of Ophthalmology, 64, 1120-1125.","journal-title":"American J7ournal of Ophthalmology"},{"key":"ref_8","article-title":"of the report by Rosenthal and Duke","volume-title":"of direct lineal transmission in two generations. In the family they reported, the parents, one of whom was affected, were related as full second cousins, and the a priori probability of the other being a carrier was or 0-0625. That four of their five progeny were affected was somewhat unexpected, given that Neonatal testicular torsion in two brothers among five child families, only 0-015 would be expected to have precisely four affected on the hypothesis of an autosomal recessive gene. These four affected progeny had a total of 10 children, not one of whom was affected, an event expected as infrequently as 0 001 on a dominant gene hypothesis","year":"1967","unstructured":"of the report by Rosenthal and Duke (1967) of direct lineal transmission in two generations. In the family they reported, the parents, one of whom was affected, were related as full second cousins, and the a priori probability of the other being a carrier was or 0-0625. That four of their five progeny were affected was somewhat unexpected, given that Neonatal testicular torsion in two brothers among five child families, only 0-015 would be expected to have precisely four affected on the hypothesis of an autosomal recessive gene. These four affected progeny had a total of 10 children, not one of whom was affected, an event expected as infrequently as 0 001 on a dominant gene hypothesis ([R] 0)."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.12.1.110","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:00:27Z","timestamp":1760720427000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.12.1.110"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1975,3]]},"references-count":8,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1975,3,1]]},"published-print":{"date-parts":[[1975,3]]}},"alternative-id":["10.1136\/jmg.12.1.110"],"URL":"https:\/\/doi.org\/10.1136\/jmg.12.1.110","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1975,3]]}}}