Case report: A novel 5'-UTR-exon1-intron1 deletion in MLYCD in an IVF child with malonyl coenzyme A decarboxylase deficiency and literature review

The subject of the study is an 11-month old IVF baby girl with the typical clinical manifestation of malonyl coenzyme A decarboxylase deficiency, including developmental delay, limb weakness, cardiomyopathy, and excessive excretion of malonic acid and methylmalonic acid. Whole genome sequencing (WGS...

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Detalles Bibliográficos
Autores principales: Xu, Fang, Wu, Yangyang, Huang, Jiyi, Zhou, Yunguo, Xu, Fei, Duan, Junkai, Li, Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10189016/
https://www.ncbi.nlm.nih.gov/pubmed/37206471
http://dx.doi.org/10.3389/fmed.2023.1160879

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10189016/
https://www.ncbi.nlm.nih.gov/pubmed/37206471
http://dx.doi.org/10.3389/fmed.2023.1160879

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