Biallelic pathogenic variants in TBCD-related neurodevelopment disease with mild clinical features.
Di TianKhan RizwanYi LiuLulu KangYanlin YangXiao MaoLi ShuPublished in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2019)
Our research expanded the clinical spectrum of TBCD-related neurodevelopmental disease which contributed to understanding the genotype-phenotype correlations of the disease.
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