A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis
Craniosynostosis, the premature ossification of cranial sutures, is a developmental disorder of the skull vault, occurring in approximately 1 in 2250 births. The causes are heterogeneous, with a monogenic basis identified in ~25% of patients. Using whole-genome sequencing, we identified a novel, de...
| Main Authors: | , , , , , , , , , , , , , , , , |
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| Format: | Journal article |
| Published: |
Oxford University Press
2019
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| Subjects: |