{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T15:52:27Z","timestamp":1783698747468,"version":"3.55.0"},"reference-count":8,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T00:00:00Z","timestamp":1768953600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T00:00:00Z","timestamp":1768953600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Distal arthrogryposis constitutes a highly heterogeneous group of disorders with a critical need for clear classification. Phenotypes have traditionally been characterized using the classification system proposed by Bamshad or Hall for distal arthrogryposis. Recessive\n                    <jats:italic>MYH3<\/jats:italic>\n                    inheritance has been described in contractures, pterygia and spondylocarpotarsal fusion syndrome, and, more recently, in distal arthrogryposis without skeletal fusion. We hereby report a nuclear family affected by distal arthrogryposis with biallelic\n                    <jats:italic>MYH3<\/jats:italic>\n                    \u2010related disorder, identifying two novel variants, which in the heterozygous state yield a subclinical phenotype. Beyond refining the molecular diagnosis and guiding genetic counseling, our study emphasizes that the classification of\n                    <jats:italic>MYH3<\/jats:italic>\n                    \u2010related disorders and their inheritance modes is still evolving, underscoring the need to integrate knowledge gained from careful analyses.\n                  <\/jats:p>","DOI":"10.1111\/cge.70142","type":"journal-article","created":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T11:47:51Z","timestamp":1768996071000},"page":"1059-1063","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Biallelic\n                    <scp>\n                      <i>MYH3<\/i>\n                    <\/scp>\n                    Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?"],"prefix":"10.1111","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7520-4046","authenticated-orcid":false,"given":"Omar","family":"Zgheib","sequence":"first","affiliation":[{"name":"Service de M\u00e9decine G\u00e9n\u00e9tique H\u00f4pitaux Universitaire Gen\u00e8ve  Gen\u00e8ve Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Rio\u2010Frio","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine G\u00e9n\u00e9tique H\u00f4pitaux Universitaire Gen\u00e8ve  Gen\u00e8ve Switzerland"},{"name":"D\u00e9partement de M\u00e9decine G\u00e9n\u00e9tique et D\u00e9veloppement, Facult\u00e9 de M\u00e9decine Universit\u00e9 de Gen\u00e8ve  Gen\u00e8ve Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Guipponi","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine G\u00e9n\u00e9tique H\u00f4pitaux Universitaire Gen\u00e8ve  Gen\u00e8ve Switzerland"},{"name":"D\u00e9partement de M\u00e9decine G\u00e9n\u00e9tique et D\u00e9veloppement, Facult\u00e9 de M\u00e9decine Universit\u00e9 de Gen\u00e8ve  Gen\u00e8ve Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6650-9147","authenticated-orcid":false,"given":"Thierry","family":"Nouspikel","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine G\u00e9n\u00e9tique H\u00f4pitaux Universitaire Gen\u00e8ve  Gen\u00e8ve Switzerland"},{"name":"D\u00e9partement de M\u00e9decine G\u00e9n\u00e9tique et D\u00e9veloppement, Facult\u00e9 de M\u00e9decine Universit\u00e9 de Gen\u00e8ve  Gen\u00e8ve Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siv","family":"Fokstuen","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine G\u00e9n\u00e9tique H\u00f4pitaux Universitaire Gen\u00e8ve  Gen\u00e8ve Switzerland"},{"name":"Universit\u00e4res Herzzentrum Z\u00fcrich, Klinik f\u00fcr Kardiologie Universit\u00e4tsspital Z\u00fcrich  Z\u00fcrich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Abramowicz","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine G\u00e9n\u00e9tique H\u00f4pitaux Universitaire Gen\u00e8ve  Gen\u00e8ve Switzerland"},{"name":"D\u00e9partement de M\u00e9decine G\u00e9n\u00e9tique et D\u00e9veloppement, Facult\u00e9 de M\u00e9decine Universit\u00e9 de Gen\u00e8ve  Gen\u00e8ve Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7754-969X","authenticated-orcid":false,"given":"Philippe","family":"Khau Van Kien","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine G\u00e9n\u00e9tique H\u00f4pitaux Universitaire Gen\u00e8ve  Gen\u00e8ve Switzerland"},{"name":"D\u00e9partement de M\u00e9decine G\u00e9n\u00e9tique et D\u00e9veloppement, Facult\u00e9 de M\u00e9decine Universit\u00e9 de Gen\u00e8ve  Gen\u00e8ve Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,1,21]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31716"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096\u20108628(19961111)65:4<277::AID\u2010AJMG6>3.0.CO;2\u2010M"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41525\u2010021\u201000273\u2010x"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.04.008"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.03.008"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61836"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14570"}],"container-title":["Clinical 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