{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T12:13:27Z","timestamp":1772799207844,"version":"3.50.1"},"reference-count":11,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2013,5,24]],"date-time":"2013-05-24T00:00:00Z","timestamp":1369353600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:label\/><jats:p>Nephronophthisis associated ciliopathies (NPHP\u2010AC) are a group of phenotypically related conditions that include Joubert syndrome, Meckel syndrome, nephronophthisis (NPHP), and Senior\u2013Loken syndrome. We report on a male fetus with prenatal ultrasound findings at 24 weeks of gestation of anhydramnios, large and echogenic kidneys and <jats:italic>situs inversus<\/jats:italic> totalis. Histopathology revealed nephronophthisis and tracheal mucosa electron microscopy revealed ciliary dysgenesis. DNA analysis of the NPHP genes showed a previously unreported homozygous mutation, p.Arg603* (c.1078+1G&gt;A), in the <jats:italic>INVS\/NPHP2<\/jats:italic> gene. This mutation is thought to abolish the splice donor site for exon 8, which likely disrupts the normal splicing of the <jats:italic>INVS\/NPHP2<\/jats:italic> gene. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36036","type":"journal-article","created":{"date-parts":[[2013,5,25]],"date-time":"2013-05-25T05:46:29Z","timestamp":1369460789000},"page":"1792-1796","source":"Crossref","is-referenced-by-count":24,"title":["Broadening the ciliopathy spectrum: Motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the <i>INVS<\/i>\/<i>NPHP2<\/i> gene"],"prefix":"10.1002","volume":"161","author":[{"given":"Sharon","family":"Moalem","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Clinical and Metabolic Genetics The Hospital for Sick Children, University of Toronto Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Keating","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Mount Sinai Hospital, University of Toronto Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"Shannon","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Mount Sinai Hospital, University of Toronto Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Megan","family":"Thompson","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Mount Sinai Hospital, University of Toronto Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathryn","family":"Millar","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program Mount Sinai Hospital, University of Toronto Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keith","family":"Nykamp","sequence":"additional","affiliation":[{"name":"Prevention Genetics Marshfield Wisconsin"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adam","family":"Forster","sequence":"additional","affiliation":[{"name":"Department of Life Sciences and Biochemistry Queen's University Kingston Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdul","family":"Noor","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Clinical and Metabolic Genetics The Hospital for Sick Children, University of Toronto Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Chitayat","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Clinical and Metabolic Genetics The Hospital for Sick 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