title: Craniosynostosis: a previously unreported association with CHST3-related skeletal dysplasia (autosomal recessive Larsen syndrome).
authors.affiliation: Clinical Genetics, Sheffield Children's Hospital, Western Bank, Sheffield Yorkshire Regional Genetics Service, Chapel Allerton Hospital Department of Radiology, Leeds General Infirmary Department of Neurosurgery, Leeds Teaching Hospitals NHS Trust, Leeds Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham, UK Diagenos, Center for Medical Genetics, Caprivistrasse 30, Osnabrueck, Germany.
authors.forename: Claire
authors.initials: C
authors.lastname: Searle
authors.forename: Rosalyn
authors.initials: R
authors.lastname: Jewell
authors.forename: Jeannette
authors.initials: J
authors.lastname: Kraft
authors.forename: Petra
authors.initials: P
authors.lastname: Stoebe
authors.forename: Paul
authors.initials: P
authors.lastname: Chumas
authors.forename: Hannah
authors.initials: H
authors.lastname: Titheradge
authors.forename: Alison
authors.initials: A
authors.lastname: Kraus
authors.forename: Martin
authors.initials: M
authors.lastname: Gencik
authors.forename: Emma
authors.initials: E
authors.lastname: Hobson
mesh_terms: D002675:Child, Preschool; D018389:Codon, Nonsense; D003398:Craniosynostoses / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000150:complications / Q000235:genetics / Q000473:pathology; D015238:Sulfotransferases / Q000235:genetics*; D000097811:Carbohydrate Sulfotransferases
chemical_list: D018389:Codon, Nonsense; D015238:Sulfotransferases; D000097811:Carbohydrate Sulfotransferases