{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T21:08:23Z","timestamp":1773090503705,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,8,27]],"date-time":"2024-08-27T00:00:00Z","timestamp":1724716800000},"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":["PMP21\/00063"],"award-info":[{"award-number":["PMP21\/00063"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PMP22\/00049"],"award-info":[{"award-number":["PMP22\/00049"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Non\u2010immune hydrops fetalis (NIHF) is a rare entity characterized by excessive accumulation of fluid within the fetal extravascular compartments and body cavities. Here we present two intrauterine fetal demises with NIHF presenting with oligohydramnios, cystic hygroma, pleural effusion, and generalized hydrops with predominance of subcutaneous edema. The fetuses also presented with ascites, severe and precocious IUGR and skeletal anomalies. Whole exome sequencing was applied in order to screen for a possible genetic cause. The results identified biallelic variants in\n                    <jats:italic>MYBBP1A<\/jats:italic>\n                    in both fetuses. A previous report described another case with a similar phenotype having compound heterozygous variants in the same gene. The protein encoded by\n                    <jats:italic>MYBBP1A<\/jats:italic>\n                    is involved in several cellular processes including the synthesis of ribosomal DNA, the response to nucleolar stress, and tumor suppression. Our functional protein analysis through immunohistochemistry indicates that\n                    <jats:italic>MYBBP1A<\/jats:italic>\n                    is a gene expressed during fetal stages. Altogether, we concluded that\n                    <jats:italic>MYBBP1A<\/jats:italic>\n                    is associated with the development of hydrops fetalis. More cases and further studies are necessary to understand the role of this gene and the mechanism associated with NIHF.\n                  <\/jats:p>","DOI":"10.1111\/cge.14601","type":"journal-article","created":{"date-parts":[[2024,8,27]],"date-time":"2024-08-27T21:05:23Z","timestamp":1724792723000},"page":"713-720","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Non\u2010immune hydrops fetalis is associated with bi\u2010allelic pathogenic variants in the\n                    <scp>MYB<\/scp>\n                    Binding Protein 1a (\n                    <scp>\n                      <i>MYBBP1A<\/i>\n                    <\/scp>\n                    ) gene"],"prefix":"10.1111","volume":"106","author":[{"given":"Jair","family":"Tenorio\u2010Castano","sequence":"first","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 Rare Malformation Syndromes  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Mansilla Aparicio","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 Rare Malformation Syndromes  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fe Amalia","family":"Garc\u00eda Santiago","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 Rare Malformation Syndromes  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cherise M.","family":"Klotz","sequence":"additional","affiliation":[{"name":"Swedish Medical Center, Maternal and Fetal Specialty Center  Seattle Washington USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita Mar\u00eda","family":"Regojo","sequence":"additional","affiliation":[{"name":"Department of Pathology La Paz University Hospital  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Estefan\u00eda","family":"Anguita","sequence":"additional","affiliation":[{"name":"CIBERER Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras  Madrid Spain"},{"name":"Instituto de Investigaciones Biomedicas Sols\u2010Morreale (IIBM), CSIC\u2010UAM  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8908-5535","authenticated-orcid":false,"given":"Erin","family":"Ryan","sequence":"additional","affiliation":[{"name":"GeneDx  Gaithersburg Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jane","family":"Juusola","sequence":"additional","affiliation":[{"name":"GeneDx  Gaithersburg Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beatriz","family":"Herrero","sequence":"additional","affiliation":[{"name":"Division of Maternal and Fetal Medicine, Department of Obstetrics and Gynecology Hospital Universitario La Paz. IdiPAZ  Madrid Spain"}],"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"},{"name":"ITHACA, European Reference Network Rare Malformation Syndromes  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4115-2065","authenticated-orcid":false,"given":"Alejandro","family":"Parra","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 Rare Malformation Syndromes  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia","family":"Pascual","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 Rare Malformation Syndromes  Brussels Belgium"}],"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 Rare Malformation Syndromes  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mario","family":"Cazalla","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 Rare Malformation Syndromes  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Rodriguez\u2010Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Division of Maternal and Fetal Medicine, Department of Obstetrics and Gynecology Hospital Universitario La Paz. IdiPAZ  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1883-5631","authenticated-orcid":false,"given":"Eugenia","family":"Antol\u00edn","sequence":"additional","affiliation":[{"name":"Division of Maternal and Fetal Medicine, Department of Obstetrics and Gynecology Hospital Universitario La Paz. 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