BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription
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چکیده
منابع مشابه
BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.
Intellectual disability (ID) is a common condition with considerable genetic heterogeneity. Next-generation sequencing of large cohorts has identified an increasing number of genes implicated in ID, but their roles in neurodevelopment remain largely unexplored. Here we report an ID syndrome caused by de novo heterozygous missense, nonsense, and frameshift mutations in BCL11A, encoding a transcr...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2016
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2016.05.030