{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:21:22Z","timestamp":1747146082592,"version":"3.40.5"},"reference-count":26,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,10,29]],"date-time":"2022-10-29T00:00:00Z","timestamp":1667001600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI20\/01053"],"award-info":[{"award-number":["PI20\/01053"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present a large, ten\u2010generation family of 273 individuals with 84 people having preaxial polydactyly\/triphalangeal thumb due to a pathogenic variant in the zone of polarizing activity regulatory sequence (ZRS) within the exon 5 of <jats:italic>LMBR1<\/jats:italic>. The causative change maps to position 396 of the ZRS, located at position c.423\u2009+\u20094909C\u2009&gt;\u2009T (chr7:156791480; hg38; <jats:italic>LMBR1<\/jats:italic> ENST00000353442.10; rs606231153 NG_009240.2) in the intron 5 of <jats:italic>LMBR1<\/jats:italic>. The first affected individual with the disorder was traced back to mid\u20101700, when some settlers and workers established in <jats:italic>Cervera de Buitrago<\/jats:italic>, a small village about 82\u2009km North to Madrid. Clinical and radiological studies of most of the affected members have been performed for 42\u2009years (follow\u2010up of the family by LFGA). Molecular studies have confirmed a pathogenic variant in the ZRS that segregates in this family. To the best of our knowledge, this is the largest family with preaxial polydactyly\/triphalangeal thumb reported so far.<\/jats:p>","DOI":"10.1002\/ajmg.a.62994","type":"journal-article","created":{"date-parts":[[2022,10,29]],"date-time":"2022-10-29T12:10:30Z","timestamp":1667045430000},"page":"100-107","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A large, ten\u2010generation family with autosomal dominant preaxial polydactyly\/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies"],"prefix":"10.1002","volume":"191","author":[{"given":"Luis Francisco Gonz\u00e1lez","family":"\u00c1lvarez","sequence":"first","affiliation":[{"name":"Centro de Salud Area 6  Madrid 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Genetics Institute of Biology, Federal University of Rio de Janeiro  Rio de Janeiro Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando","family":"Santos\u2010Simarro","sequence":"additional","affiliation":[{"name":"CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras  Madrid Spain"},{"name":"INGEMM\u2010Idipaz, Institute of Medical and Molecular Genetics  Madrid Spain"},{"name":"ITHACA, European Reference Network  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pedro","family":"Arias","sequence":"additional","affiliation":[{"name":"CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras  Madrid Spain"},{"name":"INGEMM\u2010Idipaz, Institute of Medical and Molecular Genetics  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia","family":"Gallego","sequence":"additional","affiliation":[{"name":"CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras  Madrid Spain"},{"name":"INGEMM\u2010Idipaz, Institute of Medical and Molecular Genetics  Madrid Spain"},{"name":"ITHACA, European Reference Network  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1863-6229","authenticated-orcid":false,"given":"I\u00eada Maria","family":"Orioli","sequence":"additional","affiliation":[{"name":"ECLAMC at CEMIC (Center for Medical Education and Clinical Research) and CONICET (National Council for Scientific and Technical Investigation)  Buenos Aires Argentina"},{"name":"ECLAMC (Latin American Collaborative Study of Congenital Malformations) at INAGEMP (National Institute of Population Medical Genetics)  Rio de Janeiro Brazil"},{"name":"Department of Genetics Institute of Biology, Federal University of Rio de Janeiro  Rio de Janeiro 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Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V\u00edctor","family":"Mart\u00ednez\u2010Glez","sequence":"additional","affiliation":[{"name":"CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras  Madrid Spain"},{"name":"INGEMM\u2010Idipaz, Institute of Medical and Molecular Genetics  Madrid Spain"},{"name":"ITHACA, European Reference Network  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Luisa","family":"Mart\u00ednez\u2010Fr\u00edas","sequence":"additional","affiliation":[{"name":"ECEMC, Estudio Colaborativo Espa\u00f1ol de Malformaciones Cong\u00e9nitas and CIAC, ISCIII  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V\u00edctor L.","family":"Ruiz\u2010P\u00e9rez","sequence":"additional","affiliation":[{"name":"CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras  Madrid Spain"},{"name":"ITHACA, European Reference Network  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