{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:04:02Z","timestamp":1792166642614,"version":"4.4.0"},"reference-count":10,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2013,7,4]],"date-time":"2013-07-04T00:00:00Z","timestamp":1372896000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2013,10]]},"abstract":"<jats:p><jats:bold>What's already known about this topic?<\/jats:bold> \n<jats:list list-type=\"bullet\">\n<jats:list-item><jats:p>Recently, a new subgroup of Gaucher's disease type 2 with early manifestations during fetal life has been reported.<\/jats:p><\/jats:list-item><\/jats:list><\/jats:p><jats:p><jats:bold>What does this study add?<\/jats:bold> \n<jats:list list-type=\"bullet\">\n<jats:list-item><jats:p>This report illustrates the diversity of fetal malformations observed in this entity, also called perinatal lethal Gaucher's disease, and, because of phenotypic variability, the autopsy with histological examination is useful to discuss this diagnosis.<\/jats:p><\/jats:list-item><\/jats:list><\/jats:p>","DOI":"10.1002\/pd.4171","type":"journal-article","created":{"date-parts":[[2013,6,8]],"date-time":"2013-06-08T15:21:54Z","timestamp":1370704914000},"page":"1004-1006","source":"Crossref","is-referenced-by-count":3,"title":["Phenotypic variability of prenatally presenting Gaucher's disease"],"prefix":"10.1002","volume":"33","author":[{"given":"Juliette","family":"Beaujot","sequence":"first","affiliation":[{"name":"Department of Pathology University Hospital, CHRU and Lille II University  Lille 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