{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:05:19Z","timestamp":1792166719262,"version":"4.4.0"},"reference-count":21,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2015,5,29]],"date-time":"2015-05-29T00:00:00Z","timestamp":1432857600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Cutan Med Surg"],"published-print":{"date-parts":[[2015,11]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Nail-patella syndrome (NPS) is an autosomal dominant disorder with a variable interfamilial and intrafamilial clinical expressivity and penetrance. It is caused by loss-of-function heterozygous mutation in the LIM-homeodomain transcription factor (LMX1B) located on chromosome 9q. The pleiotropic LMB1X gene, a member of the homeogene family, is involved in the development of glomerular basement membrane, dorsoventral limb structures, along with the nails and the anterior segment of the eye.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>Here, we report a Saudi Arab consanguineous family with 2 affected sisters presented with the typical nail changes of NPS.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>DNA samples were collected from the sisters and their parents after consent.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>Both sisters were found to be homozygous for a previously described disease-causing mutation (c.268C&gt;T) at the (LMX1B) gene. Both of the phenotypically normal parents were confirmed to be heterozygous for the same mutation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>This finding supports the autosomal recessive mode of inheritance in this family.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/1203475415588659","type":"journal-article","created":{"date-parts":[[2015,5,29]],"date-time":"2015-05-29T22:56:23Z","timestamp":1432940183000},"page":"595-599","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["Nail-Patella Syndrome"],"prefix":"10.1177","volume":"19","author":[{"given":"Najla","family":"Al-Dawsari","sequence":"first","affiliation":[{"name":"Johns Hopkins Aramco Healthcare, Dhahran, Saudi Arbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmed","family":"Al-Mokhadam","sequence":"additional","affiliation":[{"name":"Johns Hopkins Aramco Healthcare, Dhahran, Saudi Arbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hind","family":"Al-Abdulwahed","sequence":"additional","affiliation":[{"name":"Johns Hopkins Aramco Healthcare, Dhahran, Saudi Arbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nouriya","family":"Al-Sannaa","sequence":"additional","affiliation":[{"name":"Johns Hopkins Aramco Healthcare, Dhahran, Saudi Arbia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2015,5,29]]},"reference":[{"key":"bibr1-1203475415588659","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.7.1091"},{"key":"bibr2-1203475415588659","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1526-968X(200001)26:1<15::AID-GENE5>3.0.CO;2-V"},{"issue":"2","key":"bibr3-1203475415588659","first-page":"67","volume":"147","author":"Bongers EM","year":"2003","journal-title":"Ned Tijdschr Geneeskd"},{"key":"bibr4-1203475415588659","first-page":"108","volume":"2","author":"Abdulkareem IAI","year":"2011","journal-title":"Gene Ther"},{"issue":"4","key":"bibr5-1203475415588659","first-page":"585","volume":"33","author":"\u00c1lvarez-Mart\u00edn 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of a Saudi Arab Family With an Autosomal Recessive Inheritance"],"short-title":[],"issued":{"date-parts":[[2015,5,29]]},"references-count":21,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2015,11]]}},"alternative-id":["10.1177\/1203475415588659"],"URL":"https:\/\/doi.org\/10.1177\/1203475415588659","relation":{},"ISSN":["1203-4754","1615-7109"],"issn-type":[{"value":"1203-4754","type":"print"},{"value":"1615-7109","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,5,29]]}}}