{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T11:07:19Z","timestamp":1773832039370,"version":"3.50.1"},"reference-count":11,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,1,7]],"date-time":"2020-01-07T00:00:00Z","timestamp":1578355200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100014440","name":"Ministerio de Ciencia, Innovaci\u00f3n y Universidades","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008530","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":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) is an extremely rare autosomal recessive limb abnormality characterized by the fusion of third and fourth fingers. To date, only homozygous missense and frameshift mutations have been reported in <jats:italic>BHLHA9<\/jats:italic> associated to MSSD. In this study, we report a patient who presented with clinical and radiological features of MSSD. A customized skeletal dysplasia NGS panel revealed the presence of two novel compounds heterozygous variants in <jats:italic>BHLHA9<\/jats:italic>: NM_001164405.1: c.[226A&gt;T][269G&gt;C]; p.[(Lys76*)][(Arg90Pro)]. Thus, this is the first case of MSSD in a nonconsanguineous family.<\/jats:p>","DOI":"10.1002\/ajmg.a.61480","type":"journal-article","created":{"date-parts":[[2020,1,8]],"date-time":"2020-01-08T07:15:46Z","timestamp":1578467746000},"page":"628-631","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["First case of compound heterozygous <scp><i>BHLHA9<\/i><\/scp> variants in mesoaxial synostotic syndactyly with phalangeal reduction"],"prefix":"10.1002","volume":"182","author":[{"given":"Francisca","family":"D\u00edaz\u2010Gonz\u00e1lez","sequence":"first","affiliation":[{"name":"Institute of Medical &amp; Molecular Genetics (INGEMM) Hospital Universitario La Paz, Universidad Aut\u00f3noma de Madrid, IdiPAZ  Madrid Spain"},{"name":"Skeletal dysplasia Multidisciplinary Unit (UMDE) Hospital Universitario La Paz  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuel","family":"Parr\u00f3n\u2010Pajares","sequence":"additional","affiliation":[{"name":"Skeletal dysplasia Multidisciplinary Unit (UMDE) Hospital Universitario La Paz  Madrid Spain"},{"name":"Department of Radiology Hospital Universitario la Paz  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Barcia\u2010Ramirez","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hospital Universitario Virgen de Valme  Sevilla Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5816-7044","authenticated-orcid":false,"given":"Karen E.","family":"Heath","sequence":"additional","affiliation":[{"name":"Institute of Medical &amp; Molecular Genetics (INGEMM) Hospital Universitario La Paz, Universidad Aut\u00f3noma de Madrid, IdiPAZ  Madrid Spain"},{"name":"Skeletal dysplasia Multidisciplinary Unit (UMDE) Hospital Universitario La Paz  Madrid Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER, U753) Instituto Carlos III  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,1,7]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12964"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/hgv.2017.54"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2019.103688"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100409"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.10.012"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0167-4781(94)90001-9"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37643"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu257"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/cen.13581"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.08.005"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.61480","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61480","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61480","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61480","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,7]],"date-time":"2023-09-07T05:05:04Z","timestamp":1694063104000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61480"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1,7]]},"references-count":11,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2020,4]]}},"alternative-id":["10.1002\/ajmg.a.61480"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61480","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,1,7]]},"assertion":[{"value":"2019-12-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-12-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-01-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}