{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T15:17:19Z","timestamp":1774365439986,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,4,5]],"date-time":"2024-04-05T00:00:00Z","timestamp":1712275200000},"content-version":"vor","delay-in-days":4,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Key Clinical Message<\/jats:title>\n                  <jats:p>\n                    An encephalocele is a congenital malformation characterized by protrusion of the intracranial contents through a cranial defect. We report that a fetus of a pregnant mother who had two consecutive pregnancies with ultrasound\u2010detected encephalocele carried compound heterozygous variants in\n                    <jats:italic>B3GALNT2<\/jats:italic>\n                    NM_152490.5:c.[1423C\u2009&gt;\u2009T (p.Gln475Ter)]; [261\u20102A\u2009&gt;\u2009G] of maternal and paternal origins, respectively, as confirmed by exome sequencing followed by Sanger sequencing validation. The present case implies that mutations in\n                    <jats:italic>B3GALNT2<\/jats:italic>\n                    , a well\u2010known dystroglycanopathy causative gene, may result in a phenotype of neural tube defect, providing new insights into the clinical spectrum of\n                    <jats:italic>B3GALNT2<\/jats:italic>\n                    \u2010related disorders. Our study may contribute to prenatal screening\/diagnosis and genetic counseling of congenital brain malformations.\n                  <\/jats:p>","DOI":"10.1002\/ccr3.8691","type":"journal-article","created":{"date-parts":[[2024,4,5]],"date-time":"2024-04-05T23:53:59Z","timestamp":1712361239000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Compound heterozygous B3GALNT2 mutations in a fetus with encephalocele: A case report"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6856-4281","authenticated-orcid":false,"given":"Dandan","family":"Ling","sequence":"first","affiliation":[{"name":"Clinical Research Center For Placental Medicine In Hunan Province  Changsha City China"},{"name":"Department of Obstetrics Hunan Provincial Maternal and Child Health Care Hospital  Changsha City 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