Familial STAG2 germline mutation defines a new human cohesinopathy
نویسندگان
چکیده
منابع مشابه
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.
Next generation genomic technologies have made a significant contribution to the understanding of the genetic architecture of human neurodevelopmental disorders. Copy number variants (CNVs) play an important role in the genetics of intellectual disability (ID). For many CNVs, and copy number gains in particular, the responsible dosage-sensitive gene(s) have been hard to identify. We have collec...
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ژورنال
عنوان ژورنال: npj Genomic Medicine
سال: 2017
ISSN: 2056-7944
DOI: 10.1038/s41525-017-0009-4