Novel compound heterozygous mutations in TELO2 in an infant with You-Hoover-Fong syndrome: A case report and literature review

We report here the clinical diagnosis and treatment and genetic mutations of an infant with You-Hoover-Fong syndrome (YHFS). The relevant literature review was conducted. A female infant aged 17 months was admitted to Nanhai Affiliated Maternity and Children’s Hospital of Guangzhou University of Chi...

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Detalles Bibliográficos
Autores principales: Zhao, Yong, Han, Yu, Li, Nuo, Fu, Wenjie, Luo, Guanjun, Tan, Yuan, Qian, Xuguang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: De Gruyter 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10199318/
https://www.ncbi.nlm.nih.gov/pubmed/37215500
http://dx.doi.org/10.1515/biol-2022-0602

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10199318/
https://www.ncbi.nlm.nih.gov/pubmed/37215500
http://dx.doi.org/10.1515/biol-2022-0602

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