title: Clinical utility gene card for: cystinosis.
authors.affiliation: Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven, Katholieke Universiteit Leuven, Leuven, Belgium.
authors.forename: Elena
authors.initials: E
authors.lastname: Levtchenko
authors.affiliation: 1] Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven, Katholieke Universiteit Leuven, Leuven, Belgium [2] Department of Pediatric Nephrology, Radboud University Nijmegen, Nijmegen, The Netherlands.
authors.forename: Lambertus
authors.initials: L
authors.lastname: van den Heuvel
authors.affiliation: Division of Nephrology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Emma
authors.affiliation: 1] Inserm U983, Institut Imagine, Université Paris Descartes, Paris, France [2] Department of Genetics, Assistance Publique, Hôpitaux de Paris, Necker Hospital, Paris, France.
authors.forename: Corinne
authors.initials: C
authors.lastname: Antignac
mesh_terms: D026921:Amino Acid Transport Systems, Neutral / Q000235:genetics*; D003554:Cystinosis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D006801:Humans; D015994:Incidence; D009154:Mutation; D011296:Prenatal Diagnosis; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity
chemical_list: D026921:Amino Acid Transport Systems, Neutral; C111445:CTNS protein, human
references.citation: Pediatr Nephrol. 2011 Feb;26(2):205-15
references.pmid: 20734088
references.citation: Hum Mutat. 2002 Dec;20(6):439-46
references.pmid: 12442267
references.citation: Pediatr Nephrol. 2005 Apr;20(4):452-4
references.pmid: 15747161
references.citation: Hum Mol Genet. 2004 Jul 1;13(13):1361-71
references.pmid: 15128704
references.citation: Hum Mutat. 2008 Apr;29(4):532-6
references.pmid: 18186520
references.citation: Pediatr Nephrol. 2010 Dec;25(12):2459-67
references.pmid: 20803298
references.citation: Fertil Steril. 2010 Apr;93(6):1880-3
references.pmid: 19217094
references.citation: Eur J Hum Genet. 2009 Aug;17(8):1019-23
references.pmid: 19259134
references.citation: Ophthalmology. 2009 May;116(5):870-6
references.pmid: 19410944
references.citation: Clin J Am Soc Nephrol. 2011 Oct;6(10):2485-91
references.pmid: 21868618
references.citation: Am J Hum Genet. 2001 Oct;69(4):712-21
references.pmid: 11505338
references.citation: Compr Physiol. 2012 Jan;2(1):563-608
references.pmid: 23728980
references.citation: Am J Hum Genet. 1999 Aug;65(2):353-9
references.pmid: 10417278
references.citation: Mol Genet Metab. 2000 Sep-Oct;71(1-2):100-20
references.pmid: 11001803
references.citation: Pediatr Nephrol. 2012 Jan;27(1):115-21
references.pmid: 21786142
references.citation: Pediatr Nephrol. 2010 Jul;25(7):1263-7
references.pmid: 20352457
references.citation: Pediatr Nephrol. 2008 Jun;23(6):863-78
references.pmid: 18008091
references.citation: Mol Genet Metab. 2011 Mar;102(3):339-42
references.pmid: 21195649
references.citation: Nefrologia. 2013;33(3):308-15
references.pmid: 23640116
references.citation: Nat Genet. 1998 Apr;18(4):319-24
references.pmid: 9537412
references.citation: Eur J Hum Genet. 2003 Jul;11(7):503-8
references.pmid: 12825071
references.citation: J Am Acad Dermatol. 2013 Apr;68(4):e111-e116
references.pmid: 21963264
references.citation: N Engl J Med. 1993 Apr 22;328(16):1157-62
references.pmid: 8455682