{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T06:17:58Z","timestamp":1773296278838,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,12,12]],"date-time":"2022-12-12T00:00:00Z","timestamp":1670803200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Hydrops fetalis is a rare disorder associated with significant perinatal complications and a high perinatal mortality of at least 50%. Nonimmune hydrops fetalis (NIHF) is more frequent and results from a wide variety of etiologies. One cause of NIHF is lymphatic malformation 6 (LMPHM6) due to biallelic loss\u2010of\u2010function (LoF) variants in\n                    <jats:italic>PIEZO1<\/jats:italic>\n                    . Most individuals are diagnosed postnatally and only few clinical data are available on fetal presentations. We report six novel biallelic predicted LoF variants in\n                    <jats:italic>PIEZO1<\/jats:italic>\n                    identified by exome sequencing in six fetuses and one deceased neonate from four unrelated families affected with LMPHM6. During the pregnancy, most cases are revealed by isolated NIHF at second trimester of gestation. At post\u2010mortem examination ascites, pleural effusions and telengectasies can guide the etiological diagnosis. We aim to further describe the perinatal presentation of this condition which could be underdiagnosed.\n                  <\/jats:p>","DOI":"10.1111\/cge.14274","type":"journal-article","created":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T10:06:16Z","timestamp":1669889176000},"page":"560-565","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Perinatal presentations of non\u2010immune hydrops fetalis due to recessive\n                    <i>PIEZO1<\/i>\n                    disease: A challenging fetal diagnosis"],"prefix":"10.1111","volume":"103","author":[{"given":"Le\u00efla","family":"Ghesh","sequence":"first","affiliation":[{"name":"CHU de Nantes, UF 9321 de F\u0153topathologie et G\u00e9n\u00e9tique  Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie","family":"D\u00e9sir","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital Erasme \u2010 Cliniques Universitaires de Bruxelles  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Damien","family":"Haye","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, Hospices Civils de Lyon  Lyon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pauline","family":"Le Tanno","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique et Procr\u00e9ation H\u00f4pital Couple\u2010Enfant, CHU de Grenoble  Grenoble France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fran\u00e7oise","family":"Devillard","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique et Procr\u00e9ation H\u00f4pital Couple\u2010Enfant, CHU de Grenoble  Grenoble France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benjamin","family":"Cogn\u00e9","sequence":"additional","affiliation":[{"name":"CHU de Nantes, UF 9321 de F\u0153topathologie et G\u00e9n\u00e9tique  Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martina","family":"Marangoni","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire H\u00f4pital Erasme \u2010 Cliniques Universitaires de Bruxelles  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Tecco","sequence":"additional","affiliation":[{"name":"Service de Gyn\u00e9cologie\u2010Obst\u00e9trique Centre Hospitalier Universitaire Saint Pierre  Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Delphine","family":"Heron","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, Centre de R\u00e9f\u00e9rence \"D\u00e9ficiences Intellectuelles\", H\u00f4pitaux Universitaires Piti\u00e9 Salp\u00eatri\u00e8re \u2010 Charles Foix  Paris 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