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178 related items for PubMed ID: 32963778

  • 1. Nail-Patella syndrome with early onset end-stage renal disease in a child with a novel heterozygous missense mutation in the LMX1B homeodomain: A case report.
    Carinelli S, Blanco OA, Perdomo-Ramirez A, Claverie-Martin F.
    Biomed Rep; 2020 Nov; 13(5):49. PubMed ID: 32963778
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  • 6. Case Report: Corneal Leucoma as a Novel Clinical Presentation of Nail-Patella Syndrome in a 5-Year-Old Girl.
    Hou L, Du Y, Wu Y, Zeng Y, Zhao C.
    Front Pediatr; 2021 Nov; 9():638630. PubMed ID: 34195159
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Sweeney E, Hoover-Fong JE, McIntosh I.
    ; 1993 Nov. PubMed ID: 20301311
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  • 9. Functional characterization of LMX1B mutations associated with nail-patella syndrome.
    Sato U, Kitanaka S, Sekine T, Takahashi S, Ashida A, Igarashi T.
    Pediatr Res; 2005 Jun; 57(6):783-8. PubMed ID: 15774843
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  • 13. Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome.
    Vollrath D, Jaramillo-Babb VL, Clough MV, McIntosh I, Scott KM, Lichter PR, Richards JE.
    Hum Mol Genet; 1998 Jul; 7(7):1091-8. PubMed ID: 9618165
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  • 19. Nail-patella syndrome and renal involvement. Description of three cases and literature review.
    Granata A, Nori G, Ravazzolo R, Marini M, Castellino S, Sicurezza E, Fiore CE, Mignani R.
    Clin Nephrol; 2008 May; 69(5):377-82. PubMed ID: 18538102
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  • 20. Nail-patella syndrome-a novel mutation in the LMX1B gene.
    Nair RR, Unni VN, Indu KN, Nampoothiri S, Mathew A, Kurian G, Vimala A.
    Clin Kidney J; 2013 Jun; 6(3):305-7. PubMed ID: 26064490
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