title: A novel claudin-16 mutation, severe bone disease, and nephrocalcinosis.
authors.affiliation: Renal Unit, The Royal London Hospital, Bart's Health, Whitechapel, London, UK.
authors.forename: Luxme
authors.initials: L
authors.lastname: Nadarajah
authors.affiliation: UCL Centre for Nephrology, University College London, Rowland Hill Street, London, UK.
authors.forename: Maryam
authors.initials: M
authors.lastname: Khosravi
authors.affiliation: UCL Centre for Nephrology, University College London, Rowland Hill Street, London, UK.
authors.forename: Simona
authors.initials: S
authors.lastname: Dumitriu
authors.affiliation: UCL Centre for Nephrology, University College London, Rowland Hill Street, London, UK.
authors.forename: Enriko
authors.initials: E
authors.lastname: Klootwijk
authors.affiliation: UCL Centre for Nephrology, University College London, Rowland Hill Street, London, UK.
authors.forename: Robert
authors.initials: R
authors.lastname: Kleta
authors.affiliation: Renal Unit, The Royal London Hospital, Bart's Health, Whitechapel, London, UK.
authors.forename: Muhammad M
authors.initials: MM
authors.lastname: Yaqoob
authors.affiliation: UCL Centre for Nephrology, University College London, Rowland Hill Street, London, UK. Electronic address: stephen.walsh@ucl.ac.uk.
authors.forename: Stephen B
authors.initials: SB
authors.lastname: Walsh
mesh_terms: D000328:Adult; D018488:Bone Demineralization, Pathologic / Q000235:genetics*; D057167:Claudins / Q000235:genetics*; D006801:Humans; D053565:Hypercalciuria / Q000235:genetics*; D006996:Hypocalcemia / Q000235:genetics; D007011:Hypoparathyroidism / Q000151:congenital / Q000235:genetics; D007676:Kidney Failure, Chronic / Q000235:genetics; D008297:Male; D009154:Mutation; D009397:Nephrocalcinosis / Q000235:genetics*; D015499:Renal Tubular Transport, Inborn Errors / Q000235:genetics*
chemical_list: D057167:Claudins; C502010:claudin 16