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A 5-year-old girl with kidney impairment and severe anemia: Answers

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References

  1. Coyer SM (2005) Anemia: diagnosis and management. J Pediatr Health Care 19:380–385. https://doi.org/10.1016/j.pedhc.2005.07.014

    Article  Google Scholar 

  2. Powell DJ, Achebe MO (2016) Anemia for the primary care physician. Prim Care 43:527–542. https://doi.org/10.1016/j.pop.2016.07.006

    Article  Google Scholar 

  3. Khan L (2018) Anemia in childhood. Pediatr Ann 47:e42–e47. https://doi.org/10.3928/19382359-20180129-01

    Article  Google Scholar 

  4. Kaspar CD, Bholah R, Bunchman TE (2016) A review of pediatric chronic kidney disease. Blood Purif 41:211–217. https://doi.org/10.1159/000441737

    Article  CAS  Google Scholar 

  5. Sun F (n.d.) Genetic testing overview. Genetic testing for developmental disabilities, intellectual disability, and autism spectrum disorder [Internet]. Retrieved December 14, 2021, from https://www.ncbi.nlm.nih.gov/books/NBK310460/

  6. Vilboux T, Doherty DA, Glass IA, Parisi MA, Phelps IG, Cullinane AR, Zein W, Brooks BP, Heller T, Soldatos A, Oden NL, Yildirimli D, Vemulapalli M, Mullikin JC, Nisc Comparative Sequencing Program, Malicdan M, Gahl WA, Gunay-Aygun M (2017). Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center. Genet Med 19:875–882. https://doi.org/10.1038/gim.2016.204

  7. König J, Kranz B, König S, Schlingmann KP, Titieni A, Tönshoff B, Habbig S, Pape L, Häffner K, Hansen M, Büscher A, Bald M, Billing H, Schild R, Walden U, Hampel T, Staude H, Riedl M, Gretz N et al (2017) Phenotypic spectrum of children with nephronophthisis and related ciliopathies. Clin J Am Soc Nephrol 12:1974–1983. https://doi.org/10.2215/CJN.01280217

    Article  Google Scholar 

  8. Luo F, Tao YH (2018) Nephronophthisis: a review of genotype-phenotype correlation. Nephrology (Carlton) 23:904–911. https://doi.org/10.1111/nep.13393

    Article  Google Scholar 

  9. Hildebrandt F, Attanasio M, Otto E (2009) Nephronophthisis: disease mechanisms of a ciliopathy. J Am Soc Nephrol 20:23–35. https://doi.org/10.1681/ASN.2008050456

    Article  CAS  Google Scholar 

  10. Srivastava S, Molinari E, Raman S, Sayer JA (2017) Many genes-one disease? Genetics of nephronophthisis (NPHP) and NPHP-associated disorders. Front Pediatr 5:287. https://doi.org/10.3389/fped.2017.00287

    Article  Google Scholar 

  11. Stokman MF, Saunier S, Benmerah A (2021) Renal ciliopathies: sorting out therapeutic approaches for nephronophthisis. Front Cell Dev Biol 9:653138. https://doi.org/10.3389/fcell.2021.653138

    Article  Google Scholar 

  12. Braun DA, Hildebrandt F (2017) Ciliopathies. Cold Spring Harb Perspect Biol 9:a028191. https://doi.org/10.1101/cshperspect.a028191

    Article  CAS  Google Scholar 

  13. Hildebrandt F, Attanasio M, Otto E (2009) Nephronophthisis: disease mechanisms of a ciliopathy. J Am Soc Nephrol 20:23–35. https://doi.org/10.1681/ASN.2008050456

    Article  CAS  Google Scholar 

  14. Romani M, Micalizzi A, Valente EM (2013) Joubert syndrome: congenital cerebellar ataxia with the molar tooth. Lancet Neurol 12:894–905. https://doi.org/10.1016/S1474-4422(13)70136-4

    Article  Google Scholar 

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Steinman, B., Del Rio, M., Zolotnitskaya, A. et al. A 5-year-old girl with kidney impairment and severe anemia: Answers. Pediatr Nephrol 38, 393–396 (2023). https://doi.org/10.1007/s00467-022-05608-z

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