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