Cargando…
Biallelic mutations in UGDH cause congenital microcephaly
Autores principales: | Shu, Li, Xie, Guangyao, Mei, Daoqi, Xu, Rui, Liu, Shixian, Xiao, Bo, Li, Xing, Xie, Yuanyuan, Mao, Xiao, Wang, Hua |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Chongqing Medical University
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10363629/ https://www.ncbi.nlm.nih.gov/pubmed/37492747 http://dx.doi.org/10.1016/j.gendis.2022.12.007 |
Ejemplares similares
-
Biallelic variants in VARS in a family with two siblings with intellectual disability and microcephaly: case report and review of the literature
por: Okur, Volkan, et al.
Publicado: (2018) -
Biallelic variants in KIF14 cause intellectual disability with microcephaly
por: Makrythanasis, Periklis, et al.
Publicado: (2018) -
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy
por: Marafi, Dana, et al.
Publicado: (2020) -
A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome
por: Ganapathi, Mythily, et al.
Publicado: (2022) -
Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation
por: Carvalhal, Sara, et al.
Publicado: (2022)