title: Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2).
authors: Neil V
authors: NV
authors: Whittock
authors: Louise
authors: L
authors: Izatt
authors: Anuska
authors: A
authors: Mann
authors: Tessa
authors: T
authors: Homfray
authors: Christopher
authors: C
authors: Bennett
authors: Sahar
authors: S
authors: Mansour
authors: Jane
authors: J
authors: Hurst
authors: Alan
authors: A
authors: Fryer
authors: Anand K
authors: AK
authors: Saggar
authors: Julian G
authors: JG
authors: Barwell
authors: Sian
authors: S
authors: Ellard
authors: Peter T
authors: PT
authors: Clayton
mesh_terms: D000293:Adolescent; D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D002675:Child, Preschool; D002806:Chondrodysplasia Punctata / Q000235:genetics*; D041321:Chromosomes, Human, X; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D017354:Point Mutation; D013251:Steroid Isomerases
chemical_list: D002352:Carrier Proteins; D013251:Steroid Isomerases; C090445:EBP protein, human