{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T11:13:29Z","timestamp":1790680409500,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2017,8,4]],"date-time":"2017-08-04T00:00:00Z","timestamp":1501804800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,10]]},"abstract":"<jats:sec><jats:label\/><jats:p>Researchers have identified a subset of Holstein having a range of skeletal deformities, including vertebral anomalies, referred to as complex vertebral malformation due to mutations in the <jats:italic>SLC35A3<\/jats:italic> gene. Here, we report the first case in humans of <jats:italic>SLC35A3<\/jats:italic>\u2010related vertebral anomalies. Our patient had prenatally diagnosed anomalous vertebrae, including butterfly, and hemivertebrae throughout the spine, as well as cleft palate, micrognathia, patent foramen ovale, patent ductus arteriosus, posterior embryotoxon, short limbs, camptodactyly, talipes valgus, rocker bottom feet, and facial dysmorphism including proptosis, nevus flammeus, and a cupped left ear. Clinical exome sequencing revealed a novel missense homozygous mutation in <jats:italic>SLC35A3<\/jats:italic>. Follow\u2010up biochemical analysis confirmed abnormal protein glycosylation, consistent with a defective Golgi UDP\u2010GlcNAc transporter, validating the mutations. Congenital disorders of glycosylation, including SLC35A3\u2010CDG, can present as a wide phenotypic spectrum, including skeletal dysplasia. Previously reported patients with SLC35A3\u2010CDG have been described with syndromic autism, epilepsy, and arthrogryposis.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38374","type":"journal-article","created":{"date-parts":[[2017,8,4]],"date-time":"2017-08-04T13:52:40Z","timestamp":1501854760000},"page":"2758-2762","source":"Crossref","is-referenced-by-count":29,"title":["A human case of <i>SLC35A3<\/i>\u2010related skeletal dysplasia"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0313-0743","authenticated-orcid":false,"given":"Andrew C.","family":"Edmondson","sequence":"first","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics The Children's Hospital of Philadelphia Philadelphia Pennsylvania"},{"name":"Department of Pediatrics Perelman School of Medicine of the University of Pennsylvania Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma 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Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xueli","family":"Li","sequence":"additional","affiliation":[{"name":"Division of Laboratory Medicine, Department of Pathology and Laboratory Medicine The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miao","family":"He","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Perelman School of Medicine of the University of Pennsylvania Philadelphia Pennsylvania"},{"name":"Division of Laboratory Medicine, Department of Pathology and Laboratory Medicine The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine H.","family":"Zackai","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics The Children's Hospital of Philadelphia Philadelphia Pennsylvania"},{"name":"Department of Pediatrics Perelman School of Medicine of the University of Pennsylvania Philadelphia 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