{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T01:56:53Z","timestamp":1790042213310,"version":"4.0.1"},"reference-count":12,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2018,1,22]],"date-time":"2018-01-22T00:00:00Z","timestamp":1516579200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR\u201013\u2010BSV1\u20100027"],"award-info":[{"award-number":["ANR\u201013\u2010BSV1\u20100027"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR 2013 CILAXCAL ANR\u201013\u2010BSV1\u20100027"],"award-info":[{"award-number":["ANR 2013 CILAXCAL ANR\u201013\u2010BSV1\u20100027"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006005","name":"Agence de la Biom\u00e9decine","doi-asserted-by":"publisher","award":["AOR2010"],"award-info":[{"award-number":["AOR2010"]}],"id":[{"id":"10.13039\/501100006005","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2018,4,17]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>The <jats:italic>RTTN<\/jats:italic> gene encodes Rotatin, a large centrosomal protein involved in ciliary functions. <jats:italic>RTTN<\/jats:italic> mutations have been reported in seven families and are associated with two phenotypes: polymicrogyria associated with seizures and primary microcephaly associated with primordial dwarfism.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case<\/jats:title><jats:p>A targeted exome sequencing of morbid genes causing cerebral malformations identified novel <jats:italic>RTTN<\/jats:italic> compound heterozygous mutations in a family where three pregnancies were terminated because a severe fetal microcephaly was diagnosed. An autopsy performed on the second sib showed moderate growth restriction and a microcephaly with simplified gyral pattern. The histopathological study discovered a malformed cortical plate.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The present study confirms the involvement of <jats:italic>RTTN<\/jats:italic> gene mutations in microcephaly with simplified gyral pattern and describes the observed abnormal neuropathological findings.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdr2.1204","type":"journal-article","created":{"date-parts":[[2018,1,22]],"date-time":"2018-01-22T15:22:26Z","timestamp":1516634546000},"page":"598-602","source":"Crossref","is-referenced-by-count":10,"title":["A neuropathological study of novel <i>RTTN<\/i> gene mutations causing a familial microcephaly with simplified gyral pattern"],"prefix":"10.1002","volume":"110","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2932-5282","authenticated-orcid":false,"given":"Suzanne","family":"Chartier","sequence":"first","affiliation":[{"name":"Service d'Histologie\u2010Embryologie\u2010Cytog\u00e9n\u00e9tique 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