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Links from MedGen

Items: 5

1.
Correction: Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes
Bekim Sadikovic, Jing Wang, Ayman W. El-Hattab, Megan Landsverk, Ganka Douglas, Ellen K. Brundage, William J. Craigen, Eric S. Schmitt, Lee-Jun C. Wong
PLoS One. 2017; 12(11): e0188610. Published online 2017 Nov 20. doi: 10.1371/journal.pone.0188610
Corrects:
PLoS One. 2010; 5(12): e15687.
PMCID:
PMC5695760
CorrectionPubReaderPDF–213KCite
2.
Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes
Bekim Sadikovic, Jing Wang, Ayman El-Hattab, Megan Landsverk, Ganka Douglas, Ellen K. Brundage, William J. Craigen, Eric S. Schmitt, Lee-Jun C. Wong
PLoS One. 2010; 5(12): e15687. Published online 2010 Dec 20. doi: 10.1371/journal.pone.0015687
Correction in:
PLoS One. 2017; 12(11): e0188610.
PMCID:
PMC3004954
ArticlePubReaderPDF–1.3MCite
3.
Kearns‐Sayre syndrome case. Novel 5,9 kb mtDNA deletion
Kristina Grigalionienė, Birutė Burnytė, Danutė Balkelienė, Laima Ambrozaitytė, Algirdas Utkus
Mol Genet Genomic Med. 2023 Jan; 11(1): e2059. Published online 2022 Oct 1. doi: 10.1002/mgg3.2059
PMCID:
PMC9834195
ArticlePubReaderPDF–791KCite
4.
Broadening the phenotypic spectrum of Pearson Syndrome: Five new cases and a review of the literature
K. Taylor Wild, Amy C. Goldstein, Colleen Muraresku, Rebecca D. Ganetzky
Am J Med Genet A. Author manuscript; available in PMC 2020 Aug 1.
Published in final edited form as: Am J Med Genet A. 2020 Feb; 182(2): 365–373. Published online 2019 Dec 11. doi: 10.1002/ajmg.a.61433
PMCID:
PMC7183758
ArticlePubReaderPDF–489KCite
5.
Large Mitochondrial DNA Deletion in an Infant with Addison Disease
Gloria P. Duran, A. Martinez-Aguayo, H. Poggi, M. Lagos, D. Gutierrez, P. R. Harris
JIMD Rep. 2012; 3: 5–9. Published online 2011 Sep 22. doi: 10.1007/8904_2011_33
PMCID:
PMC3509852
ArticlePubReaderPDF–258KCite

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