title: The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations.
authors.affiliation: aDepartment of Pediatrics, University Hospital of Hvidovre, Hvidovre, Denmark bManchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre cSchool of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester dWellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
authors.forename: Allan
authors.initials: A
authors.lastname: Bayat
authors.forename: Bronwyn
authors.initials: B
authors.lastname: Kerr
authors.forename: Sofia
authors.initials: S
authors.lastname: Douzgou
mesh_terms: D001842:Bone and Bones / Q000002:abnormalities* / Q000473:pathology; D059327:Brachydactyly / Q000473:pathology; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003398:Craniosynostoses / Q000235:genetics* / Q000473:pathology*; D004476:Ectodermal Dysplasia / Q000235:genetics* / Q000473:pathology*; D019066:Facies; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype
chemical_list: D002352:Carrier Proteins; C000603049:IFT140 protein, human