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

Conclusion Genetic DNA sequencing is a crucial method for diagnosing BRMUTD. This approach enriches the genotype and spectrum of BRMUTD syndrome and the outcome of the patient.

Source: Molecular Genetics & Genomic Medicine - September 13, 2020 Category: Genetics & Stem Cells Authors: Yan Zhang, Cai Mei Lin, Xiao Lan Zheng, Kuerbanjiang Abuduxikuer Tags: CLINICAL REPORT Source Type: research