Nadia Zanetti

Nadia Zanetti

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Nadia Zanetti

Nadia Zanetti

Publications by authors named "Nadia Zanetti"

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Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment.

Am J Med Genet A 2019 May 17;179(5):827-831. Epub 2019 Feb 17.

Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.a.61092DOI Listing
May 2019

A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation.

Turk J Haematol 2017 12 23;34(4):376-377. Epub 2017 Aug 23.

Fondazione IRCCS Carlo Besta, Molecular Neurogenetics Unit, Milan, Italy.

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http://dx.doi.org/10.4274/tjh.2017.0231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5774363PMC
December 2017