{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,28]],"date-time":"2025-09-28T06:50:40Z","timestamp":1759042240245,"version":"3.40.5"},"reference-count":12,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,11,11]],"date-time":"2020-11-11T00:00:00Z","timestamp":1605052800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,2]]},"abstract":"Abstract<\/jats:title>Cenani Lenz syndrome is a rare autosomal recessive disorder associated with variable degree of limb malformations, dysmorphism, and renal agenesis. It is caused due to pathogenic variants in the LRP4<\/jats:italic> gene, which plays an important role in limb and renal development. Mutations in the APC<\/jats:italic> gene have also been occasionally associated with CLS. The phenotypic spectrum ranges from mild to very severe perinatal lethal type depending on the type of variant. We report a pathogenic variant, c.2710 del T (p.Trp904GlyfsTer5) in theLRP4<\/jats:italic> gene, in a fetus with lethal Cenani Lenz syndrome with antenatal presentation of tetraphocomelia and symmetrical involvement of hands and feet.<\/jats:p>","DOI":"10.1002\/ajmg.a.61971","type":"journal-article","created":{"date-parts":[[2020,11,12]],"date-time":"2020-11-12T07:18:02Z","timestamp":1605165482000},"page":"620-624","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Lethal Cenani Lenz syndrome in two consecutive pregnancies: Further extension of phenotype from Maldives"],"prefix":"10.1002","volume":"185","author":[{"given":"Dhanya","family":"Yesodharan","sequence":"first","affiliation":[{"name":"Department of Pediatric Genetics Amrita Institute of Medical Sciences and Research Center Cochin India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vivek","family":"Krishnan","sequence":"additional","affiliation":[{"name":"Department of Perinatology Amrita Institute of Medical Sciences and Research Center Cochin India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Indu R.","family":"Nair","sequence":"additional","affiliation":[{"name":"Department of Pathology Amrita Institute of Medical Sciences and Research Center Cochin India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aparna","family":"Ganapathy","sequence":"additional","affiliation":[{"name":"Strand Life Sciences Bangalore India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ashraf U.","family":"Mannan","sequence":"additional","affiliation":[{"name":"Strand Life Sciences Bangalore India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9575-0722","authenticated-orcid":false,"given":"Sheela","family":"Nampoothiri","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Amrita Institute of Medical Sciences and Research Center Cochin India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,11,11]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1155\/2011\/428714"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.60694"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00438491"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1096-8628(19970627)70:4<341::aid-ajmg1>3.0.co;2-w"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.Pone.0010418"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.03.004"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36647"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.14"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2016.4"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0004092"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102850"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61971","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61971","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61971","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,17]],"date-time":"2023-08-17T01:23:41Z","timestamp":1692235421000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61971"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11,11]]},"references-count":12,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021,2]]}},"alternative-id":["10.1002\/ajmg.a.61971"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61971","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2020,11,11]]},"assertion":[{"value":"2020-09-03","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-10-17","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-11-11","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}