Craniosynostoses

Definition:

Craniosynostosis (CRS) is the premature fusion of the cranial sutures and secondary distortion of skull shape.

References:

[1]. Andrew T Timberlake, et al. Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles. Elife. 2016 Sep 8;5:e20125. [Content Brief]

[2]. David Johnson, et al. Craniosynostosis. Eur J Hum Genet. 2011 Apr;19(4):369-76. [Content Brief]

[3]. David R Fitzpatrick, et al. Filling in the gaps in cranial suture biology. Nat Genet. 2013 Mar;45(3):231-2. [Content Brief]

[4]. E W Jabs, et al. A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Cell. 1993 Nov 5;75(3):443-50. [Content Brief]

[5]. Garima Yagnik, et al. ALX4 gain-of-function mutations in nonsyndromic craniosynostosis. Hum Mutat. 2012 Dec;33(12):1626-9. [Content Brief]

[6]. Stephen R F Twigg, et al. Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability. Am J Hum Genet. 2015 Sep 3;97(3):378-88. [Content Brief]

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