Article
A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing
25 Jul 2019
Abstract excerpt
BACKGROUND: zinc finger transcription factor, is essential for the development of immune and neural systems. METHODS: Herein, we describe a Chinese girl presenting craniofacial abnormalities, developmental delay and intellectual disability with speech impairment. Exomes of genes were enriched with the Agilent SureSelect QXT ALL Human Exon V6 kit and sequenced on Illumina Hiseq 2500 platform. RESULTS: After...
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