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A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis.
Goos JAC, Vogel WK, Mlcochova H, Millard CJ, Esfandiari E, Selman WH, Calpena E, Koelling N, Carpenter EL, Swagemakers SMA, van der Spek PJ, Filtz TM, Schwabe JWR, Iwaniec UT, Mathijssen IMJ, Leid M, Twigg SRF. Goos JAC, et al. Among authors: carpenter el. Hum Mol Genet. 2019 Aug 1;28(15):2501-2513. doi: 10.1093/hmg/ddz072. Hum Mol Genet. 2019. PMID: 31067316 Free PMC article.