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This is the first male described so far with both coloboma and other midline defects. A detailed autopsy on an affected female fetus from the mother's second pregnancy is presented.<\/jats:p>","DOI":"10.1002\/ajmg.1320400121","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:12:40Z","timestamp":1118549560000},"page":"100-104","source":"Crossref","is-referenced-by-count":28,"title":["Joubert syndrome: A clinical and pathological description of an affected male and a female fetus from the same sibship"],"prefix":"10.1002","volume":"40","author":[{"given":"Dieuwke B.","family":"van Dorp","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alzbeta","family":"Palan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mei Lan","family":"Kwee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter G.","family":"Barth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johan J.","family":"van der Harten","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-196307000-00007"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0028-1091505"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970040512"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260211"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1980.tb03716.x"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.45.8.737"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1978.tb15307.x"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1978.tb15308.x"},{"key":"e_1_2_1_10_1","first-page":"715","article-title":"Le syndrome de Joubert \u00e9tude clinique et anatomo\u2010pathologique","volume":"12","author":"Harmant\u2010van Rijckevorsel G","year":"1983","journal-title":"Rev Neurol (Paris)"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.22.8.771"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.3171\/jns.1984.61.3.0515"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.26.12.1152"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.19.9.813"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.59.8.709"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01846041"},{"key":"e_1_2_1_17_1","first-page":"101","article-title":"Letters to the Editor","volume":"137","author":"Lindhout D","year":"1981","journal-title":"Eur J Pediatr"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(85)80647-8"},{"key":"e_1_2_1_19_1","first-page":"389","article-title":"Dandy\u2010Walker syndrome revisited","volume":"18","author":"Maria BL","year":"1985","journal-title":"Ann Neurol"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02173444"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00690696"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00401.x"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320180414"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1980.tb04327.x"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320400121","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320400121","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T08:11:54Z","timestamp":1698048714000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320400121"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,7]]},"references-count":23,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1991,7]]}},"alternative-id":["10.1002\/ajmg.1320400121"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320400121","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,7]]}}}