title: Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossification.
authors.forename: Puja
authors.initials: P
authors.lastname: Mehta
authors.forename: Adam
authors.initials: A
authors.lastname: Mitchell
authors.forename: Carolyn
authors.initials: C
authors.lastname: Tysoe
authors.forename: Richard
authors.initials: R
authors.lastname: Caswell
authors.forename: Martina
authors.initials: M
authors.lastname: Owens
authors.forename: Tonia
authors.initials: T
authors.lastname: Vincent
mesh_terms: D000328:Adult; D053098:Familial Hypophosphatemic Rickets / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D008022:Ligaments / Q000473:pathology*; D009999:Ossification, Heterotopic / Q000235:genetics* / Q000473:pathology; D010727:Phosphoric Diester Hydrolases / Q000235:genetics*; D011755:Pyrophosphatases / Q000235:genetics*
chemical_list: D010727:Phosphoric Diester Hydrolases; C065962:ectonucleotide pyrophosphatase phosphodiesterase 1; D011755:Pyrophosphatases