{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T03:55:00Z","timestamp":1782964500955,"version":"3.54.5"},"reference-count":18,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,5,1]],"date-time":"2013-05-01T00:00:00Z","timestamp":1367366400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Limb patterning and growth are complex embryonic processes in which the elaborately orchestrated interplay of diverse endocrine and paracrine factors is crucial to limb integrity. LRP4 is a lipoprotein receptor known for its regulatory effects on LRP5\u2010 and LRP6\u2010mediated Wnt signaling, a pathway that plays a pivotal role in limb development. Recessive mutations in <jats:italic>LRP4<\/jats:italic> have been shown to cause Cenani\u2013Lenz syndrome, which is characterized by severe limb malformations, an unusual face, and renal abnormalities. We report on a child with severe Cenani\u2013Lenz syndrome caused by a novel homozygous nonsense mutation in <jats:italic>LRP4<\/jats:italic>. The severity of the phenotype in a patient with absent residual LRP4 function may point to a genotype\u2013phenotype correlation. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35920","type":"journal-article","created":{"date-parts":[[2013,5,2]],"date-time":"2013-05-02T05:33:52Z","timestamp":1367472832000},"page":"1475-1479","source":"Crossref","is-referenced-by-count":25,"title":["Severe Cenani\u2013Lenz syndrome caused by loss of LRP4 function"],"prefix":"10.1002","volume":"161","author":[{"given":"Ariana","family":"Kariminejad","sequence":"first","affiliation":[{"name":"Kariminejad\u2010Najmabadi Pathology &amp; Genetics Center Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Stollfu\u00df","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Cologne Cologne Germany"},{"name":"Center for Molecular Medicine Cologne (CMMC), University of Cologne Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun","family":"Li","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Cologne Cologne Germany"},{"name":"Center for Molecular Medicine Cologne (CMMC), University of Cologne Cologne Germany"},{"name":"Cologne Excellence Cluster on Cellular Stress Responses in Aging\u2010Associated Diseases (CECAD), University of Cologne Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nina","family":"B\u00f6gershausen","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Cologne Cologne Germany"},{"name":"Center for Molecular Medicine Cologne (CMMC), University of Cologne Cologne Germany"},{"name":"Cologne Excellence Cluster on Cellular Stress Responses in Aging\u2010Associated Diseases (CECAD), University of Cologne Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Boss","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Cologne Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raoul C.M.","family":"Hennekam","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Clinical Genetics Academic Medical Center, University of Amsterdam Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernd","family":"Wollnik","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Cologne Cologne Germany"},{"name":"Center for Molecular Medicine Cologne (CMMC), University of Cologne Cologne Germany"},{"name":"Cologne Excellence Cluster on Cellular Stress Responses in Aging\u2010Associated Diseases (CECAD), University of Cologne Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,5]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2001.590312.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00438491"},{"key":"e_1_2_6_4_1","first-page":"145","article-title":"Cenani\u2013Lenz type of syndactyly: A complex type of syndactyly with multiple synostoses","volume":"3","author":"De Smet L","year":"1992","journal-title":"Genet Couns"},{"key":"e_1_2_6_5_1","first-page":"74","article-title":"Oligodactyly and multiple synostoses of the extremities: Two cases in sibs. 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