title: Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia.
authors.affiliation: Department of Pediatrics, Royal Hospital, Muscat, Oman.
authors.forename: Nadia
authors.initials: N
authors.lastname: Al-Hashmi
authors.forename: Faiqa
authors.initials: F
authors.lastname: Imtiaz
authors.forename: Khushnooda
authors.initials: K
authors.lastname: Ramzan
authors.forename: Maha
authors.initials: M
authors.lastname: Faden
authors.forename: Taghreed
authors.initials: T
authors.lastname: Shuaib
authors.forename: Lefian
authors.initials: L
authors.lastname: Al-Otaibi
authors.forename: Amal
authors.initials: A
authors.lastname: Al-Hemidan
authors.forename: Mohammed
authors.initials: M
authors.lastname: Al-Owain
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D002675:Child, Preschool; D002972:Cleft Palate / Q000235:genetics* / Q000473:pathology; D003095:Collagen Diseases; D024043:Collagen Type II / Q000235:genetics*; D004252:DNA Mutational Analysis; D004392:Dwarfism / Q000235:genetics* / Q000473:pathology; D005091:Exons; D005145:Face / Q000002:abnormalities / Q000473:pathology; D005260:Female; D005820:Genetic Testing / Q000379:methods; D015894:Genome, Human; D006801:Humans; D006819:Hyaline Membrane Disease / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D010009:Osteochondrodysplasias; D010808:Physical Examination; D022821:RNA Splice Sites / Q000235:genetics*
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II; D022821:RNA Splice Sites