title: Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1.
authors.affiliation: aDepartment of Clinical Genetics bH.C. Andersen Children's Hospital, Odense University Hospital, Odense, Denmark cMRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh dUniversity of Southampton, Southampton, UK eDepartment of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
authors.forename: Anne B
authors.initials: AB
authors.lastname: Krøigård
authors.forename: Andrew P
authors.initials: AP
authors.lastname: Jackson
authors.forename: Louise S
authors.initials: LS
authors.lastname: Bicknell
authors.forename: Emma
authors.initials: E
authors.lastname: Baple
authors.forename: Klaus
authors.initials: K
authors.lastname: Brusgaard
authors.forename: Lars K
authors.initials: LK
authors.lastname: Hansen
authors.forename: Lilian B
authors.initials: LB
authors.lastname: Ousager
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D004252:DNA Mutational Analysis; D004392:Dwarfism / Q000175:diagnosis* / Q000235:genetics*; D019066:Facies; D005317:Fetal Growth Retardation / Q000175:diagnosis* / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics*; D010641:Phenotype; D012342:RNA, Small Nuclear / Q000235:genetics*; D035781:Siblings; D055815:Young Adult
chemical_list: D012342:RNA, Small Nuclear; C000590616:RNU4ATAC RNA, human