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A CRISPR\u2013Cas9 generated mouse model carrying the equivalent\n                    <jats:italic>Txndc15<\/jats:italic>\n                    c.512delA mutation was analyzed at embryonic day 15.5. Homozygous\n                    <jats:italic>Txndc15<\/jats:italic>\n                    <jats:sup>mt\/mt<\/jats:sup>\n                    embryos displayed the complete MKS phenotype\u2014fetal lethality, exencephaly, omphalocele, post\u2010axial polydactyly, and polycystic kidneys\u2014together with markedly reduced TXNDC15 protein in brain, liver, and kidney. These findings confirm\n                    <jats:italic>TXNDC15<\/jats:italic>\n                    as a bona fide MKS disease gene.\n                  <\/jats:p>","DOI":"10.1002\/dvg.70040","type":"journal-article","created":{"date-parts":[[2026,1,10]],"date-time":"2026-01-10T10:37:26Z","timestamp":1768041446000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<scp>CRISPR<\/scp>\n                    \u2010Cas9\u2010Generated\n                    <scp>\n                      <i>TXNDC15<\/i>\n                    <\/scp>\n                    c.\n                    <scp>560delA<\/scp>\n                    Homozygous Mouse Model Exhibits Meckel\u2013Gruber Syndrome Phenotype"],"prefix":"10.1002","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9605-7877","authenticated-orcid":false,"given":"Yang","family":"Liu","sequence":"first","affiliation":[{"name":"Center for Maternal\u2010Fetal Medicine Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University  Shenzhen Guangdong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6260-9511","authenticated-orcid":false,"given":"Hui","family":"Wang","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Shenzhen Maternity and Child Healthcare Hospital, Women andChildren's Medical Center, Southern Medical University  Shenzhen Guangdong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liyuan","family":"Chen","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Shenzhen Maternity and Child Healthcare Hospital, Women andChildren's Medical Center, Southern Medical University  Shenzhen Guangdong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoxia","family":"Wu","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Shenzhen Maternity and Child Healthcare Hospital, Women andChildren's Medical Center, Southern Medical University  Shenzhen Guangdong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhiyong","family":"Xu","sequence":"additional","affiliation":[{"name":"Center for Maternal\u2010Fetal Medicine Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University  Shenzhen Guangdong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qingfa","family":"Huang","sequence":"additional","affiliation":[{"name":"Center for Maternal\u2010Fetal Medicine Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University  Shenzhen Guangdong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hu","family":"Zhang","sequence":"additional","affiliation":[{"name":"Center for Maternal\u2010Fetal Medicine Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University  Shenzhen Guangdong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiushu","family":"Cao","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Shenzhen Maternity and Child Healthcare Hospital, Women andChildren's Medical Center, Southern Medical University  Shenzhen Guangdong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinyuan","family":"Liang","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Shenzhen Maternity and Child Healthcare Hospital, Women andChildren's Medical Center, Southern Medical University  Shenzhen Guangdong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xingjian","family":"Zhong","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Shenzhen Maternity and Child Healthcare Hospital, Women andChildren's Medical Center, Southern Medical University  Shenzhen Guangdong 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