{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:14:04Z","timestamp":1787015644074,"version":"build-2736575974"},"reference-count":16,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2018,7,29]],"date-time":"2018-07-29T00:00:00Z","timestamp":1532822400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001843","name":"Science and Engineering Research Board","doi-asserted-by":"publisher","award":["EMR\/2016\/002478"],"award-info":[{"award-number":["EMR\/2016\/002478"]}],"id":[{"id":"10.13039\/501100001843","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001843","name":"Science and Engineering Research Board","doi-asserted-by":"publisher","award":["YSS\/2015\/001681"],"award-info":[{"award-number":["YSS\/2015\/001681"]}],"id":[{"id":"10.13039\/501100001843","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Obstet and Gynaecol"],"published-print":{"date-parts":[[2018,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    We report a 32\u2010week fetus conceived of consanguineous parentage which presented with severe early onset oligohydramnios and history of a similarly affected sibling in previous pregnancy. Ultrasonography and autopsy were inconclusive, prompting exome sequencing on fetal DNA. This resulted in identification of a homozygous novel 3\u2032 splice\u2010site variation in intron 17 of the\n                    <jats:italic>ACE<\/jats:italic>\n                    gene (NM_000789.3:c.2642\u20101G&gt;A), confirming diagnosis of autosomal recessive renal tubular dysgenesis, and facilitating prenatal diagnosis in subsequent pregnancy.\n                  <\/jats:p>","DOI":"10.1111\/jog.13771","type":"journal-article","created":{"date-parts":[[2018,7,30]],"date-time":"2018-07-30T00:08:12Z","timestamp":1532909292000},"page":"2181-2185","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Exome sequencing identifies novel\n                    <i>ACE<\/i>\n                    splice\u2010site variant in a fetus with renal tubular dysgenesis"],"prefix":"10.1111","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3318-8268","authenticated-orcid":false,"given":"Aneek","family":"Das Bhowmik","sequence":"first","affiliation":[{"name":"Diagnostics Division Centre for DNA Fingerprinting and Diagnostics  Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashwin","family":"Dalal","sequence":"additional","affiliation":[{"name":"Diagnostics Division Centre for DNA Fingerprinting and Diagnostics  Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashwani","family":"Tandon","sequence":"additional","affiliation":[{"name":"Department of Pathology Nizam's Institute of Medical Sciences  Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8738-9888","authenticated-orcid":false,"given":"Shagun","family":"Aggarwal","sequence":"additional","affiliation":[{"name":"Diagnostics Division Centre for DNA Fingerprinting and Diagnostics  Hyderabad India"},{"name":"Department of Medical Genetics Nizam's Institute of Medical Sciences  Hyderabad 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