The phenotypic spectrum of NFU1 variants is broader than anticipated

Josef Finsterer, MD, PhD*, Carla A. Scorza, Fulvio A. Scorza, MD

The phenotypic spectrum of NFU1 variants is broader than anticipated

Josef Finsterer, MD, PhD*, Carla A. Scorza, Fulvio A. Scorza, MD

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Josef Finsterer, MD, PhD*, Carla A. Scorza, Fulvio A. Scorza, MD, “The phenotypic spectrum of NFU1 variants is broader than anticipated”, ijmhs, vol. 10, no. 06, pp. 920–921, Jun. 2020.

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Abstract

With interest we read the article by Birjiniuk et al.
about two patients with multiple mitochondrial dysfunction
syndrome-1 (MMDS-1) due to the compound heterozygous
variant c.622G>T and c.544C>T in NFU1 who both developed
fatal pulmonary hypertension [1]. We have the following
comments and concerns.

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Innovative Journal of Medical and Health Science

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[1]

Josef Finsterer, MD, PhD*, Carla A. Scorza, Fulvio A. Scorza, MD, “The phenotypic spectrum of NFU1 variants is broader than anticipated”, ijmhs, vol. 10, no. 06, pp. 920–921, Jun. 2020.

Issue Vol. 10 No. 06 (2020): Innovative Journal of Medical and Health Science
Section Research Articles

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Innovative Journal of Medical and Health Sciences

The phenotypic spectrum of NFU1 variants is broader than anticipated

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