A heterozygous mutation in UBE2H in a patient with developmental delay leads to an aberrant brain development in zebrafish

BACKGROUND: Ubiquitin-related rare diseases are generally characterized by developmental delays and mental retardation, but the exact incidence or prevalence is not yet fully understood. The clinical application of next-generation sequencing for pediatric seizures and developmental delay of unknown...

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Detalles Bibliográficos
Autores principales: Shin, Unbeom, Choi, Yeonsong, Ko, Hwa Soo, Myung, Kyungjae, Lee, Semin, Cheon, Chong Kun, Lee, Yoonsung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10199504/
https://www.ncbi.nlm.nih.gov/pubmed/37208785
http://dx.doi.org/10.1186/s40246-023-00491-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10199504/
https://www.ncbi.nlm.nih.gov/pubmed/37208785
http://dx.doi.org/10.1186/s40246-023-00491-7

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