ATAD3A gene variations in a family with Harel-Yoon syndrome.

doi:10.3724/zdxbyxb-2023-0421

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Article

ATAD3A gene variations in a family with Harel-Yoon syndrome.

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences - 7 Dec 2023

Zheng Yi, Yu Xinyu, Zhang Ting, Hu Lingwei, Zhou Duo, Huang Xinwen

Abstract excerpt

An 11-day-old female neonate was admitted for cough with mouth foaming and feeding difficulties. The laboratory results indicated hyperlactatemia, elevated markers of myocardial injury and inflammation, and high levels of acylcarnitine octanoylcarnitine and decanoylcarnitine in tandem mass spectrometry. Ultrasonography and MRI suggested cardiac insufficiency and hypertrophic cardiomyopathy. Whole exome sequencing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38105692
DOI: 10.3724/zdxbyxb-2023-0421
PMCID: PMC10764186

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