title: An intronic mutation in DKC1 in an infant with Høyeraal-Hreidarsson syndrome.
authors.affiliation: The McGill Department of Pediatrics, The Montreal Children's Hospital (MUHC), Montreal, Quebec, Canada.
authors.forename: Toni
authors.initials: T
authors.lastname: Pearson
authors.forename: Fiona
authors.initials: F
authors.lastname: Curtis
authors.forename: Ayman
authors.initials: A
authors.lastname: Al-Eyadhy
authors.forename: Salem
authors.initials: S
authors.lastname: Al-Tamemi
authors.forename: Bruce
authors.initials: B
authors.lastname: Mazer
authors.forename: Yigal
authors.initials: Y
authors.lastname: Dror
authors.forename: Sharon
authors.initials: S
authors.lastname: Abish
authors.forename: Sherri
authors.initials: S
authors.lastname: Bale
authors.forename: John
authors.initials: J
authors.lastname: Compton
authors.forename: Reena
authors.initials: R
authors.lastname: Ray
authors.forename: Patrick
authors.initials: P
authors.lastname: Scott
authors.forename: Vazken M
authors.initials: VM
authors.lastname: Der Kaloustian
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D019943:Amino Acid Substitution; D018797:Cell Cycle Proteins / Q000235:genetics*; D002531:Cerebellum / Q000002:abnormalities*; D002658:Developmental Disabilities / Q000235:genetics; D006801:Humans; D007223:Infant; D007438:Introns / Q000235:genetics*; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics; D013577:Syndrome
chemical_list: D018797:Cell Cycle Proteins; C112148:DKC1 protein, human; D009687:Nuclear Proteins; D022821:RNA Splice Sites