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Article

A diagnostic confidence scheme for CLN3 disease.

Journal of inherited metabolic disease - 1 Nov 2021

Masten Margaux C, Corre Camille, Paciorkowski Alex R, Vierhile Amy, Adams Heather R, Vermilion Jennifer, Zimmerman Grace A, Augustine Erika F, Mink Jonathan W

Abstract excerpt

Over the past 20 years, diagnostic testing for genetic diseases has evolved, leading to variable diagnostic certainty for individuals included in long-term natural history studies. Using genotype and phenotype data from an ongoing natural history study of CLN3 disease, we developed a hierarchical diagnostic confidence scheme with three major classes: Definite, Probable, or Possible CLN3 disease. An additional...

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PMID: 34453334
DOI: 10.1002/jimd.12429
PMCID: PMC9248362

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