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From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants.
Hum Mutat. 2019 Dec;40(12):2414-2429. doi: 10.1002/humu.23898. Epub 2019 Sep 15.
Hum Mutat. 2019.
PMID: 31448843
Free PMC article.
Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease.
Stiles AR, Ferdinandusse S, Besse A, Appadurai V, Leydiker KB, Cambray-Forker EJ, Bonnen PE, Abdenur JE.
Stiles AR, et al.
Mol Genet Metab. 2015 Aug;115(4):161-7. doi: 10.1016/j.ymgme.2015.05.008. Epub 2015 May 15.
Mol Genet Metab. 2015.
PMID: 26026795
Free PMC article.
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