{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T06:59:20Z","timestamp":1698303560416},"reference-count":7,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,11,21]],"date-time":"2005-11-21T00:00:00Z","timestamp":1132531200000},"content-version":"vor","delay-in-days":6503,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[1988,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This is the first report of prenatal diagnosis of a fetus with brachio\u2010oto\u2010renal dysplasia (BOR) syndrome with right\u2010sided renal agenesis and severe left hypoplasia. The father of this fetus had malformed external ears, a left\u2010sided preauricular pit and branchial cyst, and bilateral mild to moderate deafness without a demonstrable renal anomaly. This family highlights the variable expressivity seen in the autosomal dominant BOR syndrome, the importance of genetic counselling for families with BOR syndrome, and the aetiologic heterogeneity of renal agenesis.<\/jats:p>","DOI":"10.1002\/pd.1970080204","type":"journal-article","created":{"date-parts":[[2007,3,4]],"date-time":"2007-03-04T01:28:46Z","timestamp":1172971726000},"page":"103-108","source":"Crossref","is-referenced-by-count":14,"title":["The BOR syndrome and renal agenesis\u2010prenatal diagnosis andfurther clinical delineation"],"prefix":"10.1002","volume":"8","author":[{"given":"Cheryl R.","family":"Greenberg","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cynthia L.","family":"Trevenen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jane A.","family":"Evans","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,11,21]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"1356","article-title":"Severe renal dysgenesis produced by a dominant gene","volume":"130","author":"Fitch N.","year":"1976","journal-title":"Am. J. Dis. Child."},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320020305"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250104"},{"key":"e_1_2_1_5_1","first-page":"121","article-title":"Autosomal dominant branchio\u2010oto\u2010renal dysplasia","author":"Melnick M.","year":"1975","journal-title":"Birth Defects"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb04142.x"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(46)80241-5"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198405243102101"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1970080204","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.1970080204","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T14:15:38Z","timestamp":1697897738000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.1970080204"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1988,2]]},"references-count":7,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1988,2]]}},"alternative-id":["10.1002\/pd.1970080204"],"URL":"https:\/\/doi.org\/10.1002\/pd.1970080204","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[1988,2]]}}}