{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T06:16:53Z","timestamp":1773901013034,"version":"3.50.1"},"reference-count":28,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2021,7,16]],"date-time":"2021-07-16T00:00:00Z","timestamp":1626393600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Polish National Science Centre","award":["2017\/27\/B\/NZ5\/02223"],"award-info":[{"award-number":["2017\/27\/B\/NZ5\/02223"]}]},{"name":"Polish National Science Centre","award":["OPUS.E160.18.006"],"award-info":[{"award-number":["OPUS.E160.18.006"]}]},{"name":"Polish National Science Centre","award":["6817\/IA\/SP\/2018"],"award-info":[{"award-number":["6817\/IA\/SP\/2018"]}]},{"name":"Polish Ministry of Science and Higher Education","award":["2017\/27\/B\/NZ5\/02223"],"award-info":[{"award-number":["2017\/27\/B\/NZ5\/02223"]}]},{"name":"Polish Ministry of Science and Higher Education","award":["OPUS.E160.18.006"],"award-info":[{"award-number":["OPUS.E160.18.006"]}]},{"name":"Polish Ministry of Science and Higher Education","award":["6817\/IA\/SP\/2018"],"award-info":[{"award-number":["6817\/IA\/SP\/2018"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Renal cystic diseases are characterized by genetic and phenotypic heterogeneity. Congenital renal cysts can be classified as developmental disorders and are commonly diagnosed prenatally using ultrasonography and magnetic resonance imaging. Progress in molecular diagnostics and availability of exome sequencing procedures allows diagnosis of single-gene disorders in the prenatal period. Two patients with a prenatal diagnosis of polycystic kidney disease are presented in this article. TMEM67 mutations were identified in both fetuses using a whole-exome sequencing (WES) study. In one of them, the phenotypic syndrome diagnosed prenatally was different from that diagnosed in the postnatal period.<\/jats:p>","DOI":"10.3390\/genes12071078","type":"journal-article","created":{"date-parts":[[2021,7,16]],"date-time":"2021-07-16T10:52:58Z","timestamp":1626432778000},"page":"1078","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Prenatal Versus Postnatal Diagnosis of Meckel\u2013Gruber and Joubert Syndrome in Patients with TMEM67 Mutations"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3528-6582","authenticated-orcid":false,"given":"Agnieszka","family":"Stembalska","sequence":"first","affiliation":[{"name":"Department of Genetics, Wroclaw Medical University, 50-368 Wroclaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6969-0535","authenticated-orcid":false,"given":"Ma\u0142gorzata","family":"Rydzanicz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agnieszka","family":"Pollak","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grazyna","family":"Kostrzewa","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piotr","family":"Stawinski","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3461-193X","authenticated-orcid":false,"given":"Mateusz","family":"Biela","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Division of Paediatric Propedeutics and Rare Disorders, Wroclaw Medical University, 51-618 Wroclaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6286-5526","authenticated-orcid":false,"given":"Rafal","family":"Ploski","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2930-9549","authenticated-orcid":false,"given":"Robert","family":"Smigiel","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Division of Paediatric Propedeutics and Rare Disorders, Wroclaw Medical University, 51-618 Wroclaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,7,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1007\/s40477-018-0347-9","article-title":"Pediatric Cystic Diseases of the Kidney","volume":"22","author":"Ferro","year":"2019","journal-title":"J. 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