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Growth of the skull vault is closely coordinated with expansion of the underlying brain and primarily occurs at cranial sutures. These are the narrow strips of fibrous mesenchyme separating the flat bones of the skull vault that contain a population of cells with the capacity to respond to changes in brain volume and control bone deposition at the sutural margins. Sutures fuse naturally after full brain size is achieved, but in approximately 1 in 2,250 children fusion occurs prematurely during fetal development or infancy. This is called craniosynostosis and it has potentially serious consequences for brain development and can lead to problems with vision, hearing, breathing and dentition. To understand why this happens our approach has been to identify underlying genetic causes. As well as providing invaluable information for patients and families, this has shed light on the embryological processes important for cranial suture development.
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EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 4-4
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Kerry A Miller, David A Cruz Walma,Daniel M Pinkas,Rebecca S Tooze, Joshua C Bufton,William Richardson,Charlotte E Manning, Alice E Hunt, Julien Cros,Verity Hartill,Michael J Parker,Simon J McGowan,
Journal of medical geneticsno. 5 (2024): 490-501
Francisca Diaz-Gonzalez, Javier M Sacedo-Gutiérrez,Stephen R F Twigg,Eduardo Calpena, Fernando E Carceller-Benito,Manuel Parrón-Pajares,Fernando Santos-Simarro,Karen E Heath
Frontiers in genetics (2023): 1089417
EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 55-56
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Alistair T. Pagnamenta,Carme Camps,Edoardo Giacopuzzi,John M. Taylor,Mona Hashim,Eduardo Calpena,Pamela J. Kaisaki, Akiko Hashimoto,Jing Yu, Edward Sanders,Ron Schwessinger,Jim R. Hughes,
GENOME MEDICINEno. 1 (2023): 1-25
Journal of Medical Geneticsno. 7 (2022): jmg-2022
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