A synonymous variant contributes to a rare Wiedemann-Rautenstrauch syndrome complicated with mild anemia via affecting pre-mRNA splicing

Wiedemann-Rautenstrauch syndrome (WDRTS) is an extremely rare autosomal recessive neonatal disorder. Currently, over 50 cases with variable phenotypes of WDRTS have been reported. In our cohort of prenatal and postnatal growth retardation, a female proband was found to have general growth retardatio...

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Detalles Bibliográficos
Autores principales: Peng, Qiongling, Zhang, Yan, Xian, Binqiang, Wu, Lianying, Ding, Jianying, Ding, Wuwu, Zhang, Xin, Ding, Bilan, Li, Ding, Wu, Jin, Hu, Xiaowu, Lu, Guanting
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Molecular Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9649808/
https://www.ncbi.nlm.nih.gov/pubmed/36385762
http://dx.doi.org/10.3389/fnmol.2022.1026530

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9649808/
https://www.ncbi.nlm.nih.gov/pubmed/36385762
http://dx.doi.org/10.3389/fnmol.2022.1026530

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