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

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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Bibliographic Details
Main Authors: Qiongling Peng, Yan Zhang, Binqiang Xian, Lianying Wu, Jianying Ding, Wuwu Ding, Xin Zhang, Bilan Ding, Ding Li, Jin Wu, Xiaowu Hu, Guanting Lu
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-10-01
Series:Frontiers in Molecular Neuroscience
Subjects:
Wiedemann-Rautenstrauch syndrome
Fanconi anemia
whole-exome sequencing
POLR3A
FANCA
pre-mRNA splicing
Online Access:https://www.frontiersin.org/articles/10.3389/fnmol.2022.1026530/full

Internet

https://www.frontiersin.org/articles/10.3389/fnmol.2022.1026530/full

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