Segmental uniparental disomy of chromosome 4 in a patient with methylmalonic acidemia-Reference-Cited by-同舟云学术

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Segmental uniparental disomy of chromosome 4 in a patient with methylmalonic acidemia

Published:2019-12-02 Issue:1 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Chen Min¹,Hao Hu¹,Xiong Hui¹,Cai Yao¹,Ma Fei²,Shi Congcong²,Xiao Xin¹^ORCID,Li Sitao¹

Affiliation:

1. Department of Pediatrics The Sixth Affiliated Hospital of Sun Yat‐Sen University Guangzhou China

2. Inborn Errors of Metabolism Laboratory The Sixth Affiliated Hospital of Sun Yat‐Sen University Guangzhou China

Funder

Science and Technology Foundation of Guangzhou, China

Science and Technology Planning Project of Guangdong Province, China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1063

Reference32 articles.

1. CCMG guidelines: prenatal and postnatal diagnostic testing for uniparental disomy

2. High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria

3. Methylmalonic and propionic aciduria

4. Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: A south Indian experience

5. Diabète néonatal par absence congénitale des cellules β associé à une acidémie méthylmalonique résultant d'une disomie uniparentale du chromosome 6

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159‐9T>A, in a Chinese patient with mucopolysaccharidosis type I;Molecular Genetics & Genomic Medicine;2024-08

2. Secondary acrodermatitis enteropathica‐like skin findings in a case of methylmalonic acidemia;Pediatric Dermatology;2022-06-11

3. A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4;International Journal of Molecular Sciences;2021-07-28

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