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Article

Cohesin complex-associated holoprosencephaly

26 Jun 2019

Abstract excerpt

Marked by incomplete division of the embryonic forebrain, holoprosencephaly is one of the most common human developmental disorders. Despite decades of phenotype-driven research, 80-90% of aneuploidy-negative holoprosencephaly individuals with a probable genetic aetiology do not have a genetic diagnosis. Here we report holoprosencephaly associated with variants in the two X-linked cohesin complex genes, STAG2 and...

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PMID: 31334757
DOI: 10.1093/brain/awz210

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