A novel NFIA gene nonsense mutation in a Chinese patient with macrocephaly, corpus callosum hypoplasia, developmental delay, and dysmorphic features
Author:
Affiliation:
1. Department of Neurology Xiamen Children's Hospital Fujian China
2. Department of Hepatology Children’s Hospital of Fudan University Shanghai China
Publisher
Wiley
Subject
Genetics(clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1492
Reference10 articles.
1. Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene;Bayat A.;Clinical Dysmorphology,2020
2. De Novo Gene Disruptions in Children on the Autistic Spectrum
3. NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome and Urinary Tract Defects
4. Adenovirus DNA replication in vitro: identification of a host factor that stimulates synthesis of the preterminal protein-dCMP complex.
5. Truncating mutation in NFIA causes brain malformation and urinary tract defects
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