Journal Article

Craniosynostosis: Genes and Mechanisms

Andrew O. M. Wilkie

in Human Molecular Genetics

Volume 6, issue 10, pages 1647-1656
Published in print September 1997 | ISSN: 0964-6906
Published online September 1997 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/6.10.1647
Craniosynostosis: Genes and Mechanisms

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Enlargement of the skull vault occurs by appositional growth at the fibrous joints between the bones, termed cranial sutures. Relatively little is known about the developmental biology of this process, but genetically determined disorders of premature cranial suture fusion (craniosynostosis) provide one route to the identification of some of the key molecules involved. Mutations of the MSX2, FGFR1, FGFR2, FGFR3 and TWIST genes yield new insights, both into normal and abnormal cranial suture biogenesis and into problems of broad interest, such as the conservation of molecular pathways in development, and mechanisms of mutation and dominance.

Journal Article.  7087 words.  Illustrated.

Subjects: Genetics and Genomics

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