[A case of neonatal Mitochondrial DNA depletion syndrome type 13 caused by FBXL4 gene mutation].

The clinical phenotypes of this case of MTDPS13 is characterized by lactic acidosis, distinctive facial features, growth retardation and developmental delay, for which the homozygous c.141del variant of the FBXL4 gene may be accountable.

Authors

Chenhong Wang (ORCID: https://orcid.org/0000-0003-0336-9279)
J. Chen
Yuanyuan Zhu (ORCID: https://orcid.org/0000-0001-7584-5292)
Xiaohong Wang (ORCID: https://orcid.org/0000-0001-8925-5736)
Xiaolu Ma

Institutions

Children's Hospital of Zhejiang University (CN)

Publication Details

Journal: PubMed
Published: 2024-12-10
DOI: https://doi.org/10.3760/cma.j.cn511374-20240630-00360
Primary Topic: Mitochondrial Function and Pathology
Type: article
Field-Weighted Citation Impact: 0.00

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article

[A case of neonatal Mitochondrial DNA depletion syndrome type 13 caused by FBXL4 gene mutation].

Chenhong Wang, J. Chen, Yuanyuan Zhu, Xiaohong Wang et al.

Dec 10, 2024

PubMed

Mitochondrial Function and Pathology

article

[A case of neonatal Mitochondrial DNA depletion syndrome type 13 caused by FBXL4 gene mutation].

Chenhong Wang, J. Chen, Yuanyuan Zhu, Xiaohong Wang, Xiaolu Ma

December 10, 2024article en

Abstract

The clinical phenotypes of this case of MTDPS13 is characterized by lactic acidosis, distinctive facial features, growth retardation and developmental delay, for which the homozygous c.141del variant of the FBXL4 gene may be accountable.

PubMedVol. 41(12)

Children's Hospital of Zhejiang University (CN)

Openalex Percentile: Top 80%

Mitochondrial Function and Pathology

DOI Source OpenAlex

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