A novel NFIA gene nonsense mutation in a Chinese patient with macrocephaly, corpus callosum hypoplasia, developmental delay, and dysmorphic features

BACKGROUND: NFIA gene (OMIM*600727) has been shown to be associated with a syndrome of central nervous system malformations (corpus callosum and ventriculomegaly) with or without urinary tract defects(BRMUTD) (OMIM#613735) with a low incidence. METHODS AND RESULTS:   We presented the clinical data o...

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Detalles Bibliográficos
Autores principales: Zhang, Yan, Lin, Cai Mei, Zheng, Xiao Lan, Abuduxikuer, Kuerbanjiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667355/
https://www.ncbi.nlm.nih.gov/pubmed/32926563
http://dx.doi.org/10.1002/mgg3.1492

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667355/
https://www.ncbi.nlm.nih.gov/pubmed/32926563
http://dx.doi.org/10.1002/mgg3.1492

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