nephronophthisis love



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  • The Hils wanted more than “something of a life” for their little girl, who turned out to have a rare genetic disorder called familial juvenile nephronophthisis, which causes the kidneys to develop incapacitating cysts.

    ...With Functioning Kidneys for All

  • Sayer J, Attanasio M, Pereira R, Eccles M, et al. (2006) Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome.

    PLoS ONE Alerts: New Articles

  • Bennett C, Eckert M, Dobyns W, Gleeson J, et al. (2004) The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.

    PLoS ONE Alerts: New Articles


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