Prenatal Diagnosis of Fetus With Transaldolase Deficiency Identifies Compound Heterozygous Variants: A Case Report

Transaldolase (TALDO) deficiency is a rare autosomal recessive disorder caused by variants in the TALDO1 gene that commonly results in multisystem dysfunction. Herein, we reported compound heterozygous variants in a Chinese prenatal case with TALDO deficiency using whole-exome sequencing (WES) for t...

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Detalles Bibliográficos
Autores principales: Xue, Jiaxin, Han, Jin, Zhao, Xiaopeng, Zhen, Li, Mei, Shanshan, Hu, Zhiyang, Li, Xiuzhen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8855097/
https://www.ncbi.nlm.nih.gov/pubmed/35186000
http://dx.doi.org/10.3389/fgene.2021.752272

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8855097/
https://www.ncbi.nlm.nih.gov/pubmed/35186000
http://dx.doi.org/10.3389/fgene.2021.752272

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