A novel heterozygous mutation of BCL11B gene causes neurodevelopmental disorder and middle type hypospadias in a Chinese boy with 5 years follow-up.

Abstract excerpt

As a crucial transcription factor, BCL11 transcription factor B gene (BCL11B) is expressed in the cell nucleus, and also widely expressed in the nervous and immune systems. Function of BCL11B varied, mutation of BCL11B gene may involve diverse diseases, such as immunodeficiency 49 (IMD49) and intellectual developmental disorder with speech delay, dysmorphic facies, and T-cell abnormalities (IDDSFTA). Here we...

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• China
• East Asian People
• Follow-Up Studies
• Heterozygote
• Hypospadias