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...

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Những tác giả chính:	Goos, J, Vogel, W, Mlcochova, H, Millard, C, Esfandiari, E, Selman, S, Calpena Corpas, E, Koelling, N, Carpenter, E, Swagemakers, S, van der Spek, P, Filtz, T, Schwabe, J, Iwaniec, U, Mathijssen, I, Leid, M, Twigg, S
Định dạng:	Journal article
Được phát hành:	Oxford University Press 2019
Những chủ đề:	transcription factor cranial suture affinity whole genome sequencing mice osteogenesis craniosynostosis synostosis complex lysine transcription cranium coronal suture prc2 protein genetic

A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis

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