{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T16:00:58Z","timestamp":1791993658511,"version":"4.4.0"},"reference-count":9,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T00:00:00Z","timestamp":1694563200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T00:00:00Z","timestamp":1694563200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The\n                    <jats:italic>MYH3<\/jats:italic>\n                    gene encodes the embryonic myosin heavy chain, which is crucial for the skeletal and muscular development. The\n                    <jats:italic>MYH3<\/jats:italic>\n                    variants are associated with distal arthrogryposis type 2A (Freeman\u2010Sheldon syndrome), distal arthrogryposis type 2B3 (Sheldon\u2010Hall syndrome), CPSFS1A (Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A) and CPSFS1B, which have some shared characteristics and great variability of clinical phenotypes. In this study, we report two\u00a0novel\n                    <jats:italic>MYH3<\/jats:italic>\n                    missense variants c.1024T&gt;G (p.Phe342Val) and c.3872A&gt;C (p.Gln1291Pro), demonstrating different phenotypes in the prenatal setting. This study expands the spectrum of\n                    <jats:italic>MYH3<\/jats:italic>\n                    variants and supports the domain\u2010specific genotype\u2010phenotype correlation of\n                    <jats:italic>MYH3<\/jats:italic>\n                    .\n                  <\/jats:p>","DOI":"10.1002\/pd.6440","type":"journal-article","created":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T00:13:12Z","timestamp":1694650392000},"page":"1467-1471","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Identification of two novel\n                    <i>MYH3<\/i>\n                    variants causing different phenotypes in prenatal diagnosis"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8898-0995","authenticated-orcid":false,"given":"Yang","family":"Yang","sequence":"first","affiliation":[{"name":"Prenatal Diagnosis Center Hangzhou Maternity and Child Health Care Hospital  Hangzhou Zhejiang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen","family":"Zhang","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center Hangzhou Maternity and Child Health Care Hospital  Hangzhou Zhejiang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hao","family":"Wang","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center Hangzhou Maternity and Child Health Care Hospital  Hangzhou Zhejiang China"},{"name":"Department of Cell Biology and Medical Genetics School of Medicine Zhejiang University  Hangzhou Zhejiang China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,9,13]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1440"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2016.84"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.04.008"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41525\u2010021\u201000273\u2010x"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.3892\/mmr.2019.10820"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38593"},{"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":"10.1038\/srep41803"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1775"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6440","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/pd.6440","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6440","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T11:14:26Z","timestamp":1773314066000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6440"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,13]]},"references-count":9,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2023,10]]}},"alternative-id":["10.1002\/pd.6440"],"URL":"https:\/\/doi.org\/10.1002\/pd.6440","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,9,13]]},"assertion":[{"value":"2023-08-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-02","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-13","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}